Elenco Malattie Rare - Ospedale Pediatrico Bambino Gesù
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Elenco Malattie Rare - Ospedale Pediatrico Bambino Gesù
Elenco Malattie Rare / Sinonimi Referenti Ospedale Pediatrico Bambino Gesù Recapiti a cura del Dott. Andrea Bartuli Responsabile dell’Unità Operativa Malattie Rare dell’Ospedale Pediatrico Bambino Gesù Malattie rare e Referenti OPBG Pagina 1 PatTag (english label) Lbl Apnea of prematurity Atresia of small intestine Atresia of small intestine Atresia of small intestine Blaichman syndrome Colonic atresia Common mesentery Congenital diaphragmatic hernia Congenital diaphragmatic hernia Congenital esophageal diverticulum Congenital esophageal diverticulum Congenital microgastria Congenital short bowel Diaphragmatic defect - limb deficiency skull defect Diaphragmatic defect - limb deficiency skull defect Diaphragmatic or abdominal wall malformation Digestive tract malformation Duodenal atresia Esophageal malformation Genetic digestive tract malformation Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome High anorectal malformation High anorectal malformation Intermediate anorectal malformation Intermediate anorectal malformation Intermediate anorectal malformation Isolated anorectal malformation Isolated anorectal malformation Laryngo-tracheo-esophageal cleft pulmonary hypoplasia Laryngo-tracheo-esophageal cleft type 0 Apnea del prematuro (AOP) Atresia del piccolo intestino Atresia del digiuno Sindrome "buccia di mela" Fistola tracheoesofagea - sinfalangismo Atresia del colon Mesentere comune Ernia diaframmatica Agenesia diaframmatica Diverticolo esofageo congenito Esofageo Microgastria congenita Intestino corto congenito Ernia diaframmatica - anomalie degli arti Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro Sindrome di Froster-Huch Pietro Bagolan (06) 6859-2523 [email protected] Malformazione della parete addominale o diaframmatica Malformazione del tratto digestivo Atresia duodenale Malformazione esofagea congenita Genetic digestive tract malformation Sindrome da megacolon di GoldbergShprintzen GOSHS Pietro Bagolan (06) 6859-2523 [email protected] Pietro Pietro Pietro Pietro Pietro (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Megacolon - microcefalia Pietro Bagolan (06) 6859-2523 [email protected] Ano imperforato Atresia anorettale Malformazione anorettale intermedia Ano imperforato Atresia anorettale Malformazione anorettale isolata Atresia anorettale Schisi laringo-tracheo-esofagea - ipoplasia polmonare Laryngo-tracheo-esophageal cleft type 0 Pietro Pietro Pietro Pietro Pietro Pietro Pietro Pietro (06) (06) (06) (06) (06) (06) (06) (06) 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Laryngo-tracheo-esophageal cleft type 1 Schisi laringo-tracheo-esofagea, tipo 1 Pietro Bagolan (06) 6859-2523 [email protected] Laryngo-tracheo-esophageal cleft type 2 Schisi laringo-tracheo-esofagea, tipo 2 Pietro Bagolan (06) 6859-2523 [email protected] Laryngo-tracheo-esophageal cleft type 3 Schisi laringo-tracheo-esofagea, tipo 3 Pietro Bagolan (06) 6859-2523 [email protected] Laryngo-tracheo-esophageal cleft type 4 Schisi laringo-tracheo-esofagea, tipo 4 Pietro Bagolan (06) 6859-2523 [email protected] Low anorectal malformation Low anorectal malformation Martinez-Frias syndrome Pietro Bagolan Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] [email protected] Pietro Bagolan Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] [email protected] Pietro Bagolan Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Pietro Pietro Pietro Pietro Bagolan Bagolan Bagolan Bagolan (06) (06) (06) (06) 6859-2523 6859-2523 6859-2523 6859-2523 [email protected] [email protected] [email protected] [email protected] PAGOD syndrome Pericardial and diaphragmatic defect Sepsis in premature infants Sucking/swallowing disorder Sucking/swallowing disorder associated to a chromosomal anomaly Onfalocele Cisti onfalo-mesenterica Sindrome PAGOD Agonadismo - destrocardia - ernia diaframmatica Sindrome di Kennerknecht Difetto del pericardio e del diaframma Sepsi nei neonati prematuri Disturbo dell'allattamento/deglutizione Disturbo dell'allattamento/deglutizione associato ad anomalia cromosomica Pietro Pietro Pietro Pietro Pietro Bagolan Bagolan Bagolan Bagolan Bagolan (06) (06) (06) (06) (06) 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 [email protected] [email protected] [email protected] [email protected] [email protected] Sucking/swallowing disorder associated to cervicofacial or esophageal malformation Sucking/swallowing disorder associated with a neuromuscular disease Disturbo dell'allattamento/deglutizione associato a malformazione esofagea o cervico-facciale Disturbo dell'allattamento/deglutizione associato a malattia neuromuscolare Pietro Bagolan (06) 6859-2523 [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Sucking/swallowing disorder associated with an identified syndrome Disturbo dell'allattamento/deglutizione associato a sindrome identificata Pietro Bagolan (06) 6859-2523 [email protected] Sucking/swallowing disorder associated with basal ganglia anomalies Disturbo dell'allattamento/deglutizione associato a anomalie dei gangli basali Pietro Bagolan (06) 6859-2523 [email protected] Multiple intestinal atresia Multiple intestinal atresia Neonatal acute respiratory distress with surfactant metabolism deficiency Neonatal ovarian cyst Neonatal ovarian cyst Nonsyndromic diaphragmatic or abdominal wall malformation Nonsyndromic diaphragmatic or thoracic malformation Nonsyndromic esophageal malformation Nonsyndromic gastroduodenal malformation Nonsyndromic intestinal malformation Omphalocele Omphalomesenteric cyst PAGOD syndrome PAGOD syndrome Aggiornamento 04/12/2012 Malformazione anorettale bassa Atresia anorettale Atresia biliare extraepatica e duodenale ipoplasia del pancreas - malrotazione intestinale Atresie multiple intestinali Poliatresie intestinali Distress respiratorio acuto neonatale con deficit del metabolismo del surfattante Cisti ovarica neonatale Cisti ovarica fetale Malformazione non sindromica del diaframma e della parete addominale Nonsyndromic diaphragmatic or thoracic malformation Malformazioni non sindromiche dell'esofago Malformazione gastroduodenale non sindromica Malformazione intestinale non sindromica Medico referente Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Telefono (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 e-mail [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 1/270 PatTag (english label) Lbl Sucking/swallowing disorder associated with cerebellar anomalies Sucking/swallowing disorder associated with neurologic anomalies Sucking/swallowing disorder associated with posterior fossa anomalies Medico referente Telefono e-mail Disturbo dell'allattamento/deglutizione Pietro Bagolan associato a anomalie cerebellari Disturbo del'allattamento/deglutizione Pietro Bagolan associato a anomalie neurologiche Disturbo dell'allattamento/deglutizione Pietro Bagolan associato a anomalie della fossa posteriore (06) 6859-2523 [email protected] (06) 6859-2523 [email protected] (06) 6859-2523 [email protected] Sucking/swallowing disorder associated with suprabulbar anomalies Disturbo dell'allattamento/deglutizione associato a anomalie soprabulbari Pietro Bagolan (06) 6859-2523 [email protected] Sucking/swallowing disorder not related with Pierre Robin syndrome Disturbo dell'allattamento/deglutizione non Pietro Bagolan associato alla sindrome di Pierre Robin (06) 6859-2523 [email protected] Sucking/swallowing disorder not related with Pierre Robin syndrome Disturbo dell'allattamento/deglutizione non Pietro Bagolan associato alla sequenza di Pierre Robin (06) 6859-2523 [email protected] Syndromic anorectal malformation Syndromic anorectal malformation Syndromic diaphragmatic or abdominal wall malformation Syndromic diaphragmatic or thoracic malformation Syndromic esophageal malformation Syndromic gastroduodenal malformation Malformazione anorettale sindromica Atresia anorettale Malformazione sindromica del diaframma e della parete addominale Syndromic diaphragmatic or thoracic malformation Malformazioni sindromiche dell'esofago Malformazione gastroduodenale sindromica Pietro Bagolan Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] Syndromic intestinal malformation Syndromic sucking/swallowing disorder with unidentifyed syndrome Syndromic visceral malformation Thoraco-abdominal enteric duplication Malformazione intestinale sindromica Disturbo dell'allattamento/deglutizione associato a sindrome non identificata Malformazioni viscerali sindromiche Duplicazione enterica toraco-addominale Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] Thoracolaryngopelvic dysplasia Thoracolaryngopelvic dysplasia Tracheal agenesis Tracheal anomaly Tracheobronchomegaly Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheobronchopathia osteochondroplastica Tracheo-esophageal fistula - hypospadias Displasia toraco-laringo-pelvica Sindrome di Barnes Agenesia della trachea Anomalia della trachea Tracheobroncomegalia Sindrome di Mounier-Kuhn Tracheobroncopatia osteocondroplastica Pietro Pietro Pietro Pietro Pietro Pietro Pietro (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Tracheopatia osteoplastica Pietro Bagolan (06) 6859-2523 [email protected] Fistola tracheoesofagea - ipospadia Pietro Bagolan (06) 6859-2523 [email protected] Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient neonatal arthrogryposis Tubular duplication of the esophagus Twin to twin transfusion syndrome Ittero iperbilirubinemico neonatale transitorio Transient hyperammonemia of the newborn Artrogriposi neonatale transioria Duplicazione tubulare dell'esofago Sindrome da trasfusione gemello-gemello Pietro Bagolan (06) 6859-2523 [email protected] Twin to twin transfusion syndrome Twin to twin transfusion syndrome Umbilical cord ulceration - intestinal atresia Ventral hernia Abetalipoproteinemia Abetalipoproteinemia Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan Bagolan 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 6859-2523 Pietro Bagolan (06) 6859-2523 [email protected] Pietro Bagolan Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] [email protected] Sindrome della trasfusione feto-fetale Feto-fetale Ulcerazione del cordone ombelicale atresia intestinale Ernia ventrale Pietro Bagolan Pietro Bagolan Pietro Bagolan (06) 6859-2523 (06) 6859-2523 (06) 6859-2523 [email protected] [email protected] [email protected] Pietro Bagolan (06) 6859-2523 [email protected] Andrea Bartuli Andrea Bartuli (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Abetalipoproteinemia Abetalipoproteinemia Apolipoprotein A-I deficiency Apolipoprotein A-I deficiency Apolipoprotein A-I deficiency Benign familial hypobetalipoproteinemia Abetalipoproteinemia Ipobetalipoproteinemia familiare omozigote Malattia di Bassen-Kornzweig Ipobetalipoproteinemia Deficit di apolipoproteina A-I Decifit di apo A-I Ipoalfalipoproteinemia familiare Ipobetalipoproteinemia familiare benigna Andrea Andrea Andrea Andrea Andrea Andrea Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis Childhood-onset hypophosphatasia Childhood-onset hypophosphatasia Childhood-onset hypophosphatasia Childhood-onset hypophosphatasia Chylomicron retention - MarinescoSjögren syndrome Chylomicron retention disease Chylomicron retention disease Chylomicron retention disease Chylomicron retention disease Chylomicron retention disease Congenital analbuminemia Familial combined hyperlipoproteinemia Xantomatosi cerebrotendinea Deficit di sterolo 27-idrossilasi Ipofosfatasia a esordio infantile Fosfoetanolaminuria a esordio infantile Malattia di Rathburn a esordio infantile HOPS Ritenzione dei chilomicroni - sindrome di Marinesco-Sjogren (CMRD-MSS) Malattia da ritenzione dei chilomicroni CMRD CRD Malattia di Anderson Ipobetalipoproteinemia Analbuminemia congenita Iperlipoproteinemia combinata familiare Andrea Andrea Andrea Andrea Andrea Andrea Andrea Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Andrea Andrea Andrea Andrea Andrea Andrea Andrea Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Familial hypercholesterolemia Familial hypercholesterolemia Ipercolesterolemia familiare Ipercolesterolemia da difetto del recettore di LDL Genetic dyslipidemia Sindrome HARP Ipoprebetalipoproteinemia - acantocitosi retinite pigmentosa - degenerazione pallidale Malattia del metabolismo delle HDL Hyperalphalipoproteinemia Andrea Bartuli Andrea Bartuli (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Andrea Bartuli Andrea Bartuli Andrea Bartuli (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Andrea Bartuli Andrea Bartuli (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Genetic dyslipidemia HARP syndrome HARP syndrome HDL metabolism disorder Hyperalphalipoproteinemia Aggiornamento 04/12/2012 2/270 PatTag (english label) Lbl Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia type 3 Hyperlipidemia type 3 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 4 Hyperlipoproteinemia type 4 Hyperlipoproteinemia type 4 Hyperlipoproteinemia type 5 Hyperlipoproteinemia type 5 Hypoalphalipoproteinemia Hypobetalipoproteinemia Hypoplasminogenemia Hypoplasminogenemia Hypoplasminogenemia Intellectual deficit - hypocupremia hypobetalipoproteinemia LCAT deficiency LCAT deficiency LCAT deficiency Ligneous conjunctivitis Lipid storage disease Major hypertriglyceridemia Metal transport or utilisation disorder Mixed hyperlipidemia Opsismodysplasia Rare clinical situation with an orphan designation Rare clinical situation without orphan designation Rare disease Rare disorder Rare dyslipidemia Rare hypercholesterolemia Rare hyperlipidemia Rare hypolipidemia Rare particular clinical situation Rare pediatric dyslipidemia Rare syndromic dyslipidemia Tangier disease Tangier disease Trimethylaminuria Trimethylaminuria Unclassified rare disease Acetazolamide-responsive Acetazolamide-responsive Acetazolamide-responsive Acetazolamide-responsive Acetazolamide-responsive myotonia myotonia myotonia myotonia myotonia Acetazolamide-responsive myotonia Acetazolamide-responsive myotonia Aconitase deficiency Aconitase deficiency Acquired amyloid myopathy Acquired amyloid peripheral neuropathy Telefono e-mail Ipercolesterolemia da deficit di colesterolo Andrea Bartuli 7alfa-idrossilasi (06) 6859-2744 [email protected] Iperlipidemia da deficit di triglicerido-lipasi epatica Iperlipoproteinemia, tipo 3 Dislipoproteinemia da banda beta ampia Iperlipoproteinemia, tipo 1 Deficit di apolipoproteina C-II Deficit di lipoproteina lipasi Iperchilomicronemia familiare Ipoalfalipoproteinemia Iperlipoproteinemia, tipo 4 Iperlipidemia familiare combinata Ipertrigliceridemia familiare Iperlipoproteinemia, tipo 5 Iperlipidemia maggiore Ipoalfalipoproteinemia Ipobetalipoproteinemia Deficit congenito di plasminogeno Deficit di plasminogeno, tipo 1 Ipoplasminogenemia Ritardo mentale - ipocupremia ipobetalipoproteinemia Deficit di LCAT Deficit di lecitina-colesterolo-aciltransferasi (LCAT) Ipoalfalipoproteinemia Congiuntivite lignea Malattia da deposito di lipidi Major hypertriglyceridemia Malattia dell'utilizzo o del trasporto del metallo Iperlipidemia mista Opsimodisplasia Condizione rara con designazione orfana Andrea Bartuli (06) 6859-2744 [email protected] Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Andrea Bartuli Andrea Bartuli (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Andrea Andrea Andrea Andrea Andrea (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Andrea Bartuli Andrea Bartuli Andrea Bartuli (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Rare clinical situation without orphan designation Rare disease Rare disorder Dislipidemia rara Ipercolesterolemia Rare hyperlipidemia Rare hypolipidemia Rare particular clinical situation Displipidemia pediatrica Rare syndromic dyslipidemia Malattia di Tangier Ipoalfalipoproteinemia Trimetilaminuria Sindrome dell'odore di pesce Malattia rara non meglio classificata Andrea Bartuli (06) 6859-2744 [email protected] Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea Andrea (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Miotonia sensibile all'acetazolamide Miotonia - contrazioni dolorose Miotonia congenita dolorosa Miotonia congenita sensibile all'ACZ Miotonia congenita sensibile all'acetazolamide Miotonia dolorosa Miotonia sensibile all'ACZ Deficit di aconitasi Deficit di IRE Miopatia amiloide acquisita Neuropatia periferica amiloide acquisita Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Bartuli Acquired metabolic neuropathy Acquired motoneuron disease Acquired motoneuron disease Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Acquired Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Acquired Acquired Acquired Neuropatia metabolica acquisita Malattia acquisita dei motoneuroni Malattia acquisita delle cellule delle corna anteriori neuromuscular junction disease Malattia acquisita delle giunzioni neuromuscolari peripheral movement disorder Disturbo del movimento periferico acquisito peripheral neuropathy Acquired peripheral neuropathy rod-body myopathy Miopatia acquisita con corpi a bastoncello Medico referente Acquired skeletal muscle disease Malattia acquisita del muscolo scheletrico Enrico Bertini (06) 6859-2744 [email protected] Acute and subacute inflammatory demyelinating polyneuropathy Acute and subacute inflammatory demyelinating polyneuropathy Adducted thumbs - arthrogryposis, Christian type Adducted thumbs-arthrogryposis, Dundar type Adenosine monophosphate deaminase deficiency Adrenomyeloneuropathy Adrenomyodystrophy Aicardi syndrome Aicardi syndrome Polineuropatia demielinizzante infiammatoria acuta e subacuta Poliradicoloneuropatia demielinizzante infiammataria acuta e subacuta Pollici addotti-artrogriposi, tipo Christian Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Pollici addotti-artrogriposi, tipo Dundar Enrico Bertini (06) 6859-2744 [email protected] Deficit di adenosina monofosfato deaminasi Adrenomieloneuropatia Adrenomiodistrofia Sindrome di Aicardi Agenesia del corpo calloso - anomalie corioretiniche Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini 6859-2744 6859-2744 6859-2744 6859-2744 3/270 PatTag (english label) Lbl Alexander disease Alpers syndrome Alpers syndrome Malattia di Alexander Sindrome di Alpers Degenerazione neuronale progressiva dell'infanzia associata a malatia epatica Polidistrofia sclerosante progressiva di Alpers Sindrome di Alpers-Huttenlocher Alfa-cristallinopatia Miopatia miofibrillare associata a CRYAB Miopatia nemalinica, tipo Amish Sclerosi laterale amiotrofica Malattia di Charcot Malattia di Lou-Gehrig Malattia ''multiminicore'' prenatale con artrogriposi multipla congenita Artrogriposi da distrofia muscolare Telefono e-mail Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Artrogriposi multipla - faccia da Enrico Bertini ''fischiatore'' congenita Sindrome da artrogriposi Enrico Bertini Atassia - ipogonadismo - distrofia coroidea Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Sindrome di Boucher-Neuhauser Enrico Bertini (06) 6859-2744 [email protected] Atassia - aprassia oculomotoria AOA Atassia - pancitopenia Disturbo mielocerebellare Atassia - fotosensibilità - bassa statura Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Ataxia - photosensitivity - short stature Sindrome di Fenton-Wilkinson-Toselano Enrico Bertini (06) 6859-2744 [email protected] Ataxia - tapetoretinal degeneration Ataxia - tonic upward deviation of eyes Atassia - degenerazione tapetoretinica Atassia - deviazione superiore degli occhi Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Ataxia - tonic upward deviation of eyes Sindrome di Ouvrier-Billson Enrico Bertini (06) 6859-2744 [email protected] Ataxia neuropathy spectrum Ataxia with dementia Ataxia-deafness-retardation syndrome Spettro atassia neuropatia Atassia con demenza Atassia - sordità - ritardo mentale Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Ataxia-deafness-retardation syndrome Sindrome di Reardon-Baraitser Enrico Bertini (06) 6859-2744 [email protected] Ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia-like disorder Ataxia-telangiectasia-like disorder Autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy Autosomal dominant cerebellar ataxia Atassia - telangectasia Sindrome di Louis-Bar Disturbo atassia-telangectasia-simile ATLD Miopatia centronucleare autosomica dominante AD-CNM Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atassia cerebellare, autosomica dominante Enrico Bertini (06) 6859-2744 [email protected] Autosomal Autosomal Autosomal Autosomal type 1 Autosomal type 1 Autosomal type 1 Autosomal type 1 Autosomal type 1 Autosomal type 2 Autosomal type 2 Autosomal type 2 Autosomal type 2 Autosomal type 3 Autosomal type 3 Autosomal type 3 Autosomal type 3 Autosomal type 3 Autosomal type 4 Autosomal type 4 Enrico Enrico Enrico Enrico (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] dominant cerebellar ataxia Atassia spinocerebellare Malattia di Machado-Joseph SCA Atassia cerebellare, autosomica dominante, tipo 1 ADCA1 Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia ADCAI Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia Atassia cerebellare, autosomica dominante, tipo I Sindrome cerebellare plus Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia Atassia cerebellare, autosomica dominante, tipo 2 ADCA2 Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia ADCAII Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia Atassia cerebellare, autosomica dominante, tipo II Atassia cerebellare, autosomica dominante, tipo 3 ADCA3 Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia ADCAIII Enrico Bertini (06) 6859-2744 [email protected] dominant cerebellar ataxia Atassia cerebellare, autosomica dominante, tipo III Sindrome cerebellare pura - lievi segni piramidali Atassia cerebellare, autosomica dominante, tipo 4 ADCA4 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Alpers syndrome Alpers syndrome Alpha-crystallinopathy Alpha-crystallinopathy Amish nemaline myopathy Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Antenatal multiminicore disease with congenital arthrogryposis multiplex Arthrogryposis due to muscular dystrophy Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita lissencephaly Arthrogryposis multiplex congenita lissencephaly Arthrogryposis multiplex congenita whistling face Arthrogryposis syndrome Ataxia - hypogonadism - choroidal dystrophy Ataxia - hypogonadism - choroidal dystrophy Ataxia - oculomotor apraxia type 1 Ataxia - oculomotor apraxia type 1 Ataxia - pancytopenia Ataxia - pancytopenia Ataxia - photosensitivity - short stature dominant dominant dominant dominant cerebellar cerebellar cerebellar cerebellar ataxia ataxia ataxia ataxia dominant cerebellar ataxia dominant cerebellar ataxia dominant cerebellar ataxia dominant cerebellar ataxia dominant cerebellar ataxia dominant cerebellar ataxia Aggiornamento 04/12/2012 Artrogriposi multipla congenita Amioplasia congenita Miodisplasia Artrogriposi multipla congenita lissencefalia Sindrome di Massa-Casaer-Ceulemans Medico referente Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 6859-2744 6859-2744 6859-2744 6859-2744 4/270 PatTag (english label) Lbl Autosomal dominant cerebellar ataxia type 4 Autosomal dominant cerebellar ataxia type 4 Autosomal dominant Charcot-MarieTooth disease type 2 Autosomal dominant Charcot-MarieTooth disease type 2 Autosomal dominant Charcot-MarieTooth disease type 2 Autosomal dominant Charcot-MarieTooth disease type 2A1 Autosomal dominant Charcot-MarieTooth disease type 2A1 Autosomal dominant Charcot-MarieTooth disease type 2A2 Autosomal dominant Charcot-MarieTooth disease type 2A2 Autosomal dominant Charcot-MarieTooth disease type 2B Autosomal dominant Charcot-MarieTooth disease type 2B Autosomal dominant Charcot-MarieTooth disease type 2C Autosomal dominant Charcot-MarieTooth disease type 2C Autosomal dominant Charcot-MarieTooth disease type 2D Autosomal dominant Charcot-MarieTooth disease type 2D Autosomal dominant Charcot-MarieTooth disease type 2E Autosomal dominant Charcot-MarieTooth disease type 2E Autosomal dominant Charcot-MarieTooth disease type 2F Autosomal dominant Charcot-MarieTooth disease type 2F Autosomal dominant Charcot-MarieTooth disease type 2G Autosomal dominant Charcot-MarieTooth disease type 2G Autosomal dominant Charcot-MarieTooth disease type 2I Autosomal dominant Charcot-MarieTooth disease type 2I Autosomal dominant Charcot-MarieTooth disease type 2J Autosomal dominant Charcot-MarieTooth disease type 2J Autosomal dominant Charcot-MarieTooth disease type 2K Autosomal dominant Charcot-MarieTooth disease type 2K Autosomal dominant Charcot-MarieTooth disease type 2L Autosomal dominant Charcot-MarieTooth disease type 2L Autosomal dominant Charcot-MarieTooth disease type 2M Autosomal dominant Charcot-MarieTooth disease type 2M Autosomal dominant Charcot-MarieTooth disease type 2N Autosomal dominant Charcot-MarieTooth disease type 2N Autosomal dominant Charcot-MarieTooth disease type 2O Autosomal dominant complex spastic paraplegia Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant distal myopathy Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant focal dystonia, DYT7 type Autosomal dominant focal dystonia, DYT7 type Autosomal dominant focal dystonia, DYT7 type Autosomal dominant focal dystonia, DYT7 type Autosomal dominant hereditary axonal motor and sensory neuropathy ADCAIV Enrico Bertini (06) 6859-2744 [email protected] Atassia cerebellare, autosomica dominante, tipo IV Malattia di Charcot-Marie-Tooth, tipo 2, autosomica dominante Malattia assonale di Charcot-Marie-Tooth, autosomica dominante Neuropatia sensitivo-motoria ereditaria, tipo 2 Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2A1 CMT2A1 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Distonia di torsione focale a esordio nell'adulto Distonia di torsione idiopatica a esordio nell'adulto Neuropathy, motor and sensory, axonal, hereditary, autosomal dominant Autosomal dominant hereditary demyelinating motor and sensory neuropathy Autosomal dominant hereditary distal motor neuropathy Autosomal dominant hereditary sensory and autonomic neuropathy Neuropathy, motor and sensory, demyelinating, hereditary, autosomal dominant Neuropathy, motor, distal, hereditary, autosomal dominant Neuropathy, sensory and autonomic, hereditary, autosomal dominant Aggiornamento 04/12/2012 Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2A2 CMT2A2 Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2B CMT2B Medico referente Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2D CMT2D Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2E CMT2E Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2F CMT2F Enrico Bertini Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2I CMT2I Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2J CMT2J Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2K CMT2K Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2L CMT2L Enrico Bertini Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2M CMT2M Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2N CMT2N Autosomal dominant Charcot-Marie-Tooth disease type 2O Paraplegia spastica ereditaria, autosomica dominante complessa Atrofia muscolare spinale benigna congenita, autosomica dominante Atrofia muscolare spinale distale benigna, autosomica dominante Miopatia distale, autosomica dominante Distrofia muscolare di Emery-Dreifuss, autosomica dominante (EDMD2) Distonia focale autosomica dominante, tipo DYT7 DYT7 e-mail Enrico Bertini Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2C CMT2C Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2G CMT2G Telefono Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] 5/270 PatTag (english label) Lbl Autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Autosomal dominant limb-girdle muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1E Autosomal dominant limb-girdle muscular dystrophy type 1E Autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant multiple pterygium syndrome Autosomal dominant progressive external ophthalmoplegia Autosomal dominant progressive external ophthalmoplegia Autosomal dominant proximal spinal muscular atrophy Autosomal dominant pure spastic paraplegia Autosomal dominant spastic ataxia Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia type 10 Autosomal dominant spastic paraplegia type 10 Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 19 Malattia di Charcot-Marie-Tooth, forma dominante-intermedia DI-CMT Malattia di Charcot-Marie-Tooth, forma dominante intermedia A Malattia di Charcot-Marie-Tooth, forma dominante intermedia B Malattia di Charcot-Marie-Tooth, forma dominante-intermedia C Malattia di Charcot-Marie-Tooth, forma dominante-intermedia D Distrofia muscolare dei cingoli, autosomica dominante Distrofia muscolare dei cingoli, autosomica dominante, tipo 1A Distrofia muscolare dei cingoli da deficit di miotilina LGMD1A Miopatia miofibrillare Miotilinopatia Aggiornamento 04/12/2012 Medico referente Telefono e-mail Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini dominante, tipo 1B Distrofia muscolare dei cingoli da deficit di Enrico Bertini lamina A/C LGMD1B Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini dominante, tipo 1C Distrofia muscolare dei cingoli da deficit di Enrico Bertini caveolina-3 LGMD1C Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini dominante, tipo 1D LGMD1D Enrico Bertini Distrofia muscolare dei cingoli, autosomica Enrico Bertini dominante, tipo 1E LGMD1E Enrico Bertini Distrofia muscolare dei cingoli, autosomica Enrico Bertini dominante, tipo 1F LGMD1F Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini dominante, tipo 1G LGMD1G Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia dei cingoli autosomica dominante, Enrico Bertini tipo 1H LGMD1H Enrico Bertini (06) 6859-2744 [email protected] Artrogriposi distale, tipo 8 Enrico Bertini (06) 6859-2744 [email protected] Oftalmoplegia esterna progressiva autosomica dominante adPEO Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atrofia muscolare spinale prossimale, autosomica dominante Paraplegia spastica ereditaria, autosomica dominante pura Atassia spastica autosomica dominante ADSA Paraplegia spastica, autosomica dominante, tipo 10 SPG10 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 12 SPG12 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 13 SPG13 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 17 HMN5B Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Neuropatia motoria distale ereditaria, tipo Enrico Bertini 5B Paraplegia spastica - amiotrofia delle mani Enrico Bertini e dei piedi SPG17 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Sindrome di Silver Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 19 Enrico Bertini (06) 6859-2744 [email protected] 6/270 PatTag (english label) Lbl Autosomal type 19 Autosomal type 29 Autosomal type 29 Autosomal type 3 Autosomal type 3 Autosomal type 3 Autosomal type 3 Autosomal type 31 Autosomal type 31 Autosomal type 37 Autosomal type 37 Autosomal type 38 Autosomal type 38 Autosomal type 4 Autosomal type 4 Autosomal type 4 Autosomal type 42 Autosomal type 42 Autosomal type 6 Autosomal type 8 Autosomal type 8 Autosomal type 9 Autosomal type 9 Autosomal type 9 Autosomal type 9 Autosomal ataxia due Autosomal ataxia due Autosomal ataxia due dominant spastic paraplegia SPG19 Enrico Bertini (06) 6859-2744 [email protected] dominant spastic paraplegia Paraplegia spastica, autosomica dominante, tipo 29 SPG29 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 3 Malattia di Strumpell Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica familiare, autosomica dominante, tipo 1 SPG3A Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 31 SPG31 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 37 SPG37 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 38 SPG38 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 4 Paraplegia spastica, autosomica dominante, tipo 2 SPG4 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spastic paraplegia dominant spinocerebellar to a channelopathy dominant spinocerebellar to a point mutation dominant spinocerebellar to a polyglutamine anomaly Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine Autosomal dominant spinocerebellar ataxia type 7 Autosomal dominant spinocerebellar ataxia type 7 Autosomal dominant spinocerebellar ataxia type 7 Autosomal dominant striatal neurodegeneration Autosomal dominant striatal neurodegeneration Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia, Beauce type Medico referente Telefono e-mail Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica autosomica dominante, Enrico Bertini tipo 42 SPG42 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 6 Paraplegia spastica, autosomica dominante, tipo 8 SPG8 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica dominante, tipo 9 Neuropatia motoria - cataratta - statura bassa - anomalie scheletriche Paraparesi spastica - amiopatia - cataratta - reflusso gastroesofageo SPG9 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atassia spinocerebellare da canalopatia Enrico Bertini (06) 6859-2744 [email protected] Atassia spinocerebellare da mutazione Enrico Bertini puntiforme Atassia spinocerebellare da anomalia delle Enrico Bertini poliglutamine (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Atassia spinocerebellare da ripetute espansioni che non codificano per poliglutamine Atassia spinocerebellare, autosomica dominante, tipo 7 SCA7 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome cerebellare - maculopatia pigmentosa Neurodegenerazione striatale, autosomica dominante ADSD Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atassia autosomica recessiva da deficit di PEX10 Disturbo perossisomiale lieve da deficit di PEX10 Atassia da deficit di ubichinone, autosomica recessiva Atassia da deficit del coenzima Q(10), autosomica recessiva Atassia autosomica recessiva, tipo Beauce Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Autosomal recessive ataxia, Beauce type ARCA1 Enrico Bertini (06) 6859-2744 [email protected] Autosomal recessive ataxia, Beauce type Atassia cerebellare, autosomica recessiva, tipo 1 Malattia di Charcot-Marie-Tooth assonale, Autosomal recessive axonal CharcotMarie-Tooth disease type 2 autosomica recessiva, tipo 2 AR-CMT2 Autosomal recessive axonal CharcotMarie-Tooth disease type 2 Malattia assonale di Charcot-Marie-Tooth, Autosomal recessive axonal CharcotMarie-Tooth disease type 2 autosomica recessiva, tipo 4C Autosomal recessive centronuclear Miopatia centronucleare autosomica myopathy recessiva AR-CNM Autosomal recessive centronuclear myopathy Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Aggiornamento 04/12/2012 7/270 PatTag (english label) Lbl Autosomal recessive cerebellar ataxia Atassia cerebellare, autosomica recessiva Autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia blindness - deafness Autosomal recessive cerebellar ataxia epilepsy - intellectual deficit Autosomal recessive cerebellar ataxia psychomotor retardation Autosomal recessive cerebellar ataxia saccadic intrusion Autosomal recessive cerebellar ataxia saccadic intrusion Autosomal recessive cerebellar ataxia due to a DNA repair defect Autosomal recessive cerebelloparenchymal disorder type 3 Autosomal recessive Charcot-MarieTooth disease with hoarseness Autosomal recessive Charcot-MarieTooth disease with hoarseness Autosomal recessive Charcot-MarieTooth disease with hoarseness Autosomal recessive Charcot-MarieTooth disease with hoarseness ARCA Atassia cerebellare autosomica cecità - sordità Autosomal recessive cerebellar epilepsy - intellectual deficit Autosomal recessive cerebellar psychomotor retardation Atassia cerebellare autosomica intrusione saccadica SCASI - Medico referente Telefono e-mail Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini recessiva - Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] ataxia - Enrico Bertini (06) 6859-2744 [email protected] ataxia - Enrico Bertini (06) 6859-2744 [email protected] recessiva - Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] CMT4C4 assonale autosomica recessiva Enrico Bertini (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth assonale, autosomica recessiva, tipo 2K Enrico Bertini (06) 6859-2744 [email protected] Autosomal recessive Charcot-MarieTooth disease, Ouvrier type Autosomal recessive Charcot-MarieTooth disease, Ouvrier type Autosomal recessive complex spastic paraplegia Autosomal recessive congenital cerebellar ataxia Autosomal recessive degenerative and progressive cerebellar ataxia Autosomal recessive distal myopathy Autosomal recessive Emery-dreifuss muscular dystrophy Autosomal recessive hereditary demyelinating motor and sensory neuropathy Autosomal recessive hereditary distal motor neuropathy Autosomal recessive hereditary sensory and autonomic neuropathy Autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Malattia di Charcot-Marie-Tooth, autosomica recessiva, tipo Ouvrier CMT Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 enricosilv[email protected] Enrico Bertini (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth intermedia, autosomica recessiva, tipo A Enrico Bertini (06) 6859-2744 [email protected] Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Autosomal recessive intermediate Charcot-Marie-Tooth disease type B RI-CMT, tipo A Enrico Bertini (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth, forma intermedia autosomica recessiva, tipo B Enrico Bertini (06) 6859-2744 [email protected] Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Autosomal recessive limb girdle muscular dystrophy type 2A Autosomal recessive limb girdle muscular dystrophy type 2A Autosomal recessive limb girdle muscular dystrophy type 2A Autosomal recessive limb girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy type C7 RI-CMT, tipo B Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2A Calpainopatia primitiva Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia musculare dei cingoli da deficit di Enrico Bertini calpaina LGMD2A Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Autosomal recessive limb-girdle muscular Distrofia muscolare dei cingoli, autosomica Enrico Bertini dystrophy due to plectin deficiency recessiva, da deficit di plectina (06) 6859-2744 [email protected] Autosomal recessive limb-girdle muscular LGMD2Q dystrophy due to plectin deficiency Enrico Bertini (06) 6859-2744 [email protected] limb-girdle muscular Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2B limb-girdle muscular Distrofia muscolare dei cingoli da deficit di Enrico Bertini disferlina Enrico Bertini limb-girdle muscular LGMD2B (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Autosomal recessive dystrophy type 2B Autosomal recessive dystrophy type 2B Autosomal recessive dystrophy type 2B Autosomal recessive dystrophy type 2C Autosomal recessive dystrophy type 2C Autosomal recessive dystrophy type 2C Autosomal recessive dystrophy type 2C Autosomal recessive dystrophy type 2C Atassia cerebellare, autosomica recessiva, da difetti nel riparo di DNA Sindrome cerebelloparenchimale, autosomica recessiva, tipo 3 Malattia di Charcot-Marie-Tooth, autosomica recessiva, con voce roca ARCMT2K Paraplegia spastica ereditaria, autosomica recessiva complessa Atassia cerebellare congenita, autosomica recessiva Atassia cerebellare degenerativa e progressiva, autosomica recessiva Miopatia distale, autosomica recessiva Distrofia muscolare di Emery-Dreifuss, autosomica recessiva (EDMD3) Neuropathy, motor and sensory, demyelinating, hereditary, autosomal recessive Neuropathy, motor, distal, hereditary, autosomal recessive Neuropathy, sensory and autonomic, hereditary, autosomal recessive Malattia di Charcot-Marie-Tooth autosomica recessiva RI-CMT Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva Autosomal recessive limb-girdle muscular Enrico Bertini dystrophy - dystroglycanopathy type C7 limb-girdle muscular Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2C limb-girdle muscular Distrofia muscolare dei cingoli da deficit di Enrico Bertini gamma-sarcoglicano Enrico Bertini limb-girdle muscular Gamma-sarcoglicanopatia limb-girdle muscular LGMD2C Enrico Bertini limb-girdle muscular LGMD Enrico Bertini Aggiornamento 04/12/2012 (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 enricosilvio.berti[email protected] 8/270 PatTag (english label) Lbl Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2M Autosomal recessive limb-girdle muscular dystrophy type 2M Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive metabolic cerebellar ataxia Autosomal recessive pure spastic paraplegia Autosomal recessive spastic ataxia optic atrophy - dysarthria Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 14 Autosomal recessive spastic paraplegia type 14 Autosomal recessive spastic paraplegia type 15 Autosomal recessive spastic paraplegia type 15 Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2D Alfa-sarcoglicanopatia Enrico Bertini Aggiornamento 04/12/2012 Medico referente Distrofia musculare dei cingoli da deficit di Enrico Bertini alfa-sarcoglicano LGMD2D Enrico Bertini Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2E Beta-sarcoglicanopatia Enrico Bertini Telefono e-mail (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli da deficit di Enrico Bertini beta-sarcoglicano LGMD2E Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2F Delta-sarcoglicanopatia Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli da deficit di Enrico Bertini delta-sarcoglicano LGMD2F Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2G Distrofia muscolare dei cingoli da deficit di Enrico Bertini teletonina LGMD2G Enrico Bertini Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2H Distrofia muscolare dei cingoli da deficit di Enrico Bertini TRIM32 LGMD2H Enrico Bertini Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2I Atrofia muscolare dei cingoli da deficit di Enrico Bertini FKRP LGMD2I Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2J Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2K Distrofia muscolare dei cingoli - ritardo mentale LGMD2K Distrofia muscolare dei cingoli autosomica recessiva, tipo 2L LGMD2L Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2M LGMD2M Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2N LGMD2N Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare dei cingoli, autosomica Enrico Bertini recessiva, tipo 2O LGMD2O Enrico Bertini LGMD Enrico Bertini Malattia dei motoneuroni inferiori a esordio infantile, autosomica recessiva Atassia cerebellare metabolica, autosomica recessiva Paraplegia spastica ereditaria, autosomica recessiva pura Atassia spastica autosomica recessiva atrofia ottica - disartria Paraplegia spastica, autosomica recessiva, tipo 11 Paraplegia spastica - ritardo mentale corpo calloso sottile SPG11 Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Nakamura-Osame Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica - ritardo mentale Enrico Bertini corpo calloso sottile Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 14 SPG14 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 15 Paraplegia spastica - degenerazione Enrico Bertini retinica (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] 9/270 PatTag (english label) Lbl Autosomal type 15 Autosomal type 15 Autosomal type 18 Autosomal type 18 Autosomal type 20 Autosomal type 20 Autosomal type 20 Autosomal type 20 Autosomal type 21 Autosomal type 21 Autosomal type 21 Autosomal type 23 Autosomal type 23 Medico referente Telefono e-mail recessive spastic paraplegia SPG15 Enrico Bertini (06) 6859-2744 [email protected] recessive spastic paraplegia Sindrome di Kjellin Enrico Bertini (06) 6859-2744 [email protected] recessive spastic paraplegia Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 18 SPG18 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 enricosilvio.bertin[email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] recessive spastic paraplegia Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 20 Paraplegia spastica a esordio infantile Enrico Bertini atrofia muscolare distale SPG20 Enrico Bertini (06) 6859-2744 [email protected] recessive spastic paraplegia Sindrome di Troyer Enrico Bertini (06) 6859-2744 [email protected] recessive spastic paraplegia Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 21 SPG21 Enrico Bertini (06) 6859-2744 [email protected] recessive spastic paraplegia (06) 6859-2744 [email protected] recessive spastic paraplegia Sindrome di Mast Enrico Bertini (06) 6859-2744 [email protected] recessive spastic paraplegia Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 23 Enrico Bertini Paraparesi spastica - vitiligine incanutimento prematuro - facies caratteristica SPG23 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] recessive spastic paraplegia recessive spastic paraplegia recessive spastic paraplegia recessive spastic paraplegia Autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 24 Autosomal recessive spastic paraplegia type 24 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 26 Autosomal recessive spastic paraplegia type 26 Autosomal recessive spastic paraplegia type 27 Autosomal recessive spastic paraplegia type 27 Autosomal recessive spastic paraplegia type 28 Autosomal recessive spastic paraplegia type 28 Autosomal recessive spastic paraplegia type 30 Autosomal recessive spastic paraplegia type 30 Autosomal recessive spastic paraplegia type 32 Autosomal recessive spastic paraplegia type 32 Autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 5A Autosomal recessive spastic paraplegia type 5A Autosomal recessive spastic paraplegia type 7 Autosomal recessive spastic paraplegia type 7 Autosomal recessive spastic paraplegia type 7 Autosomal recessive spastic paraplegia type 7 Axonal Charcot-Marie-Tooth disease with acrodystrophy Axonal Charcot-Marie-Tooth disease with acrodystrophy Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Aggiornamento 04/12/2012 Sindrome di Lison Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 24 SPG24 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 25 Paraplegia spastica autosomica recessiva - Enrico Bertini ernia del disco SPG25 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 26 SPG26 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 27 SPG27 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 28 SPG28 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 30 SPG30 Enrico Bertini (06) 6859-2744 [email protected]opbg.net (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 32 SPG32 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 35 SPG35 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica autosomica recessiva, tipo 39 Paraplegia spastica da mutazione dell'esterasi bersaglio per la neuropatia Paraplegia spastica da mutazione di NTE Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] SPG39 Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 5A SPG5A Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica, autosomica recessiva, Enrico Bertini tipo 7 SPG7 Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Paraplegia spastica autosomica recessiva, tipo 5B SPG5B Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth con acrodistrofia, forma assonale CMT Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Polineuropatia assonale associata a gammopatia monoclonale IgG/IgM/IgA Enrico Bertini (06) 6859-2744 [email protected] Polineuropatia assonale associata a gommopatia monoclonale IgG/IgM/IgA Enrico Bertini (06) 6859-2744 [email protected] 10/270 PatTag (english label) Lbl Becker muscular dystrophy Becker muscular dystrophy Bethlem myopathy Bethlem myopathy Brody myopathy Bulbospinal muscular atrophy Bulbospinal muscular atrophy of adult Distrofia muscolare, tipo Becker Distrofinopatia di Becker Miopatia, tipo Bethlem Miopatia dominante benigna Miopatia di Brody Atrofia muscolare bulbospinale Atrofia muscolare bulbospinale dell'adulto Medico referente Telefono e-mail Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bulbospinal muscular atrophy of children Atrofia muscolare bulbospinale del bambino CACH syndrome Sindrome CACH Enrico CACH syndrome Atassia infantile con ipomielinizzazione Enrico diffusa del sistema nervoso centrale Enrico CACH syndrome Leucoencefalopatia con perdita della sostanza bianca CACH syndrome Mielinolisi centrale diffusa Enrico CANOMAD syndrome Sindrome CANOMAD Enrico CANOMAD syndrome Neuropatia atassica cronica - oftalmoplegia Enrico - paraproteina IgM - agglutinine da freddo anticorpi anti-disialosil Bertini (06) 6859-2744 [email protected] Bertini Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Bertini (06) 6859-2744 [email protected] Bertini Bertini Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] enricosilvio.[email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] CANOMAD syndrome Neuropatia atassica sensitiva cronica associata a anticorpi anti-dialosil IgM Cap myopathy Miopatia a ''cappello'' Central core disease Miopatia congenita ''central core'' Centronuclear myopathy Miopatia centronucleare Centronuclear myopathy CNM Cerebellar ataxia - areflexia - pes cavus - Atassia cerebellare - areflessia - piede optic atrophy - sensorineural hearing loss cavo - atrofia ottica - sordità neurosensoriale Atassia cerebellare con neuropatia Cerebellar ataxia with peripheral neuropathy periferica Cerebellar ataxia, Cayman type Atassia cerebellare, tipo Cayman Cerebellar ataxia, Cayman type Atassia, tipo Cayman Cerebellar hypoplasia - tapetoretinal Ipoplasia cerebellare - degenerazione degeneration tapeto-retinica Cerebellar malformation Cerebellar malformation Cerebellum agenesis - hydrocephaly Aplasia del cervelletto - idrocefalo Cervical hypertrichosis - peripheral Ipertricosi cervicale - neuropatia periferica neuropathy Channelopathy due to a skeletal muscle Canalopatia da difetti del recettore Ach nel acetylcholine receptor defect muscolo scheletrico Channelopathy due to a skeletal muscle Canalopatia da difetti del canale di rilascio del calcio del reticolo sarcoplasmatico nei sarcoplasmic reticulum calcium release channel defect muscoli scheletrici Charcot-Marie-Tooth disease Malattia di Charcot-Marie-Tooth Charcot-Marie-Tooth disease CMT Charcot-Marie-Tooth disease Neuropatia ereditaria di Charcot-MarieTooth Charcot-Marie-Tooth disease - deafness - Malattia di Charcot-Marie-Tooth - sordità ritardo mentale intellectual deficit Charcot-Marie-Tooth disease - deafness - Neuropatia motoria e sensitiva ereditaria intellectual deficit associata a sordità, ritardo mentale e assenza di fibre mielinizzate sensitive di grandi dimensioni Malattia di Charcot-Marie-Tooth Charcot-Marie-Tooth disease nephropathy nefropatia Charcot-Marie-Tooth disease type 1 Malattia di Charcot-Marie-Tooth, tipo 1 Charcot-Marie-Tooth disease type 1 Neuropatia sensitivo-motoria ereditaria, tipo 1 Charcot-Marie-Tooth disease type 1A Malattia di Charcot-Marie-Tooth, tipo 1A Bertini Bertini Bertini Bertini Bertini Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Microduplicazione 17p12 Malattia di Charcot-Marie-Tooth, tipo 1B Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C CMT1B Malattia di Charcot-Marie-Tooth, tipo 1C Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D CMT1C Malattia di Charcot-Marie-Tooth, tipo 1D Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E CMT1D Malattia di Charcot-Marie-Tooth, tipo 1E Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1E CMT1E Malattia di Charcot-Marie-Tooth - sordità Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 1F Malattia di Charcot-Marie-Tooth, tipo 1F Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2B1 CMT1F Malattia di Charcot-Marie-Tooth, tipo 2B1 Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 2B1 AR-CMT2B1 Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 2B1 CMT4C1 assonale, autosomica recessiva Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 2B1 Malattia di Charcot-Marie-Tooth, autosomica recessiva, tipo 2B1 Malattia di Charcot-Marie-Tooth, tipo 2B2 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B2 CMT4C3 assonale, autosomica recessiva Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 2B2 Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 2B2 Enrico Bertini (06) 6859-2744 [email protected] Aggiornamento 04/12/2012 11/270 PatTag (english label) Lbl Charcot-Marie-Tooth disease type 2H Malattia di Charcot-Marie-Tooth, tipo 2H Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 2H Charcot-Marie-Tooth disease type 2H AR-CMT2C CMT4C2 assonale, autosomica recessiva Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 2H Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Charcot-Marie-Tooth disease type 4A Malattia assonale di Charcot-Marie-Tooth con coinvolgimento piramidale Malattia di Charcot-Marie-Tooth, tipo 4 AR-CMT1 CMT4 Malattia di Charcot-Marie-Tooth demielinizzante, autosomica recessiva Malattia di Charcot-Marie-Tooth, tipo 4A Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 CMT4A Malattia di Charcot-Marie-Tooth, tipo 4B1 Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 4B1 CMT4B1 Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4B2 Malattia di Charcot-Marie-Tooth, tipo 4B2 Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4B2 CMT4B2 Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4C Malattia di Charcot-Marie-Tooth, tipo 4C Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D CMT4C Malattia di Charcot-Marie-Tooth, tipo 4D Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 4D Neuropatia sensitivo-motoria ereditaria, tipo Lom Malattia di Charcot-Marie-Tooth, tipo 4E Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4F Neuropatia ipomielinizzante congenita, autosomica recessiva Malattia di Charcot-Marie-Tooth, tipo 4F Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G CMT4F Malattia di Charcot-Marie-Tooth, tipo 4G Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 enr[email protected] [email protected] Charcot-Marie-Tooth disease type 4G Neuropatia sensitivo-motoria ereditaria, tipo Russe Malattia di Charcot-Marie-Tooth, tipo 4H Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4H Enrico Bertini (06) 6859-2744 [email protected] Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J CMT4H Malattia di Charcot-Marie-Tooth, tipo 4J Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Charcot-Marie-Tooth disease type 4J CMT4J Childhood-onset autosomal recessive Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia slowly progressive spinocerebellar ataxia Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Childhood-onset proximal spinal muscular atrophy, autosomal dominant Enrico Bertini (06) 6859-2744 [email protected] Childhood-onset proximal spinal muscular atrophy, autosomal dominant Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'infanzia Atrofia muscolare spinale giovanile, autosomica dominante Enrico Bertini (06) 6859-2744 [email protected] Childhood-onset proximal spinal muscular atrophy, autosomal dominant Malattia di Kugelberg-Welander, autosomica dominante Enrico Bertini (06) 6859-2744 [email protected] Chronic acquired demyelinating polyneuropathy Chronic acquired demyelinating polyneuropathy Chronic inflammatory demyelinating polyneuropathy Chronic inflammatory demyelinating polyneuropathy Chronic inflammatory demyelinating polyneuropathy Coenzyme Q 10 deficiency Coenzyme Q 10 deficiency Complex familial spastic paraplegia Polineuropatia demielinizzante cronica acquisita CADP Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Polineuropatia demielinizzante infiammatoria cronica CIDP Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Charcot-Marie-Tooth Charcot-Marie-Tooth Charcot-Marie-Tooth Charcot-Marie-Tooth disease disease disease disease type type type type 4 4 4 4 Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4E Medico referente Bertini Bertini Bertini Bertini Telefono e-mail (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Congenital contractural arachnodactyly Poliradiculoneuropatia demielinizzante infiammatoria cronica Deficit di coenzima Q10 Deficit di CoQ10 Paraplegia spastica ereditaria, forma complessa Sindrome di Beals Enrico Bertini (06) 6859-2744 [email protected] Congenital contractural arachnodactyly Artrogriposi distale, tipo 9 Enrico Bertini (06) 6859-2744 [email protected] Congenital contractural arachnodactyly Sindrome CCA Enrico Bertini (06) 6859-2744 [email protected] Congenital contractural arachnodactyly Sindrome contratture-aracnodattilia, tipo congenito Sindrome di Beals-Hecht Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Miopatia da disproporzione congenita del tipo di fibra Miopatia letale congenita, tipo ComptonNorth Miopatia ''multicore'' congenita con oftalmoplegia esterna Distrofia muscolare congenita Distrofia muscolare congenita - cataratta infantile - ipogonadismo Sindrome di Bassoe Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Congenital contractural arachnodactyly Congenital fiber-type disproportion myopathy Congenital lethal myopathy, ComptonNorth type Congenital multicore myopathy with external ophthalmoplegia Congenital muscular dystrophy Congenital muscular dystrophy - infantile cataract - hypogonadism Congenital muscular dystrophy - infantile cataract - hypogonadism Aggiornamento 04/12/2012 12/270 PatTag (english label) Lbl Congenital muscular dystrophy due to extracellular matrix protein anomaly Telefono e-mail Distrofia muscolare congenita da anomalia Enrico Bertini delle proteine della matrice extracellulare (06) 6859-2744 [email protected] Congenital muscular dystrophy due to glycosyltransferase anomaly Congenital muscular dystrophy due to lamine A/C deficiency Congenital muscular dystrophy due to lamine A/C deficiency Congenital muscular dystrophy due to lamine A/C deficiency Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect Distrofia muscolare congenita da anomalia delle glicosiltransferasi Distrofia muscolare congenita da deficit di lamina A/C Distrofia muscolare congenita legata a LMNA L-CMD Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly Congenital muscular dystrophy type 1A Distrofia muscolare congenita da anomalia Enrico Bertini delle proteine del reticolo endoplasmatico (06) 6859-2744 [email protected] Distrofia muscolare congenita, tipo 1A Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy type 1A Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy type 1A Distrofia muscolare congenita da deficit di laminina alfa2 Distrofia muscolare congenita merosinanegativa MDC1A Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy type 1B Distrofia muscolare congenita, tipo 1B Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy type 1C Distrofia muscolare congenita, tipo 1C Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy type 1A Medico referente Congenital muscular dystrophy type 1D Distrofia muscolare congenita, tipo 1D Enrico Bertini (06) 6859-2744 [email protected] Congenital muscular dystrophy with integrin deficiency Congenital muscular dystrophy, Fukuyama type Congenital muscular dystrophy, Fukuyama type Congenital muscular dystrophy, Fukuyama type Congenital muscular dystrophy, Fukuyama type Congenital muscular dystrophy, Ullrich type Congenital muscular dystrophy, Ullrich type Congenital muscular dystrophy, Ullrich type Congenital myopathy Congenital myopathy with central nuclei Distrofia muscolare congenita con deficit di Enrico Bertini integrina Distrofia muscolare congenita, tipo Enrico Bertini Fukuyama Distrofia muscolare congenita di Fukuyama Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] FCMD Enrico Bertini (06) 6859-2744 [email protected] Lissencefalia, tipo II Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare congenita di Ullrich Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare scleroatonica Enrico Bertini (06) 6859-2744 [email protected] Congenital myopathy with cores Miopatia congenita con strutture centrali Malattia di Ullrich Enrico Bertini (06) 6859-2744 [email protected] Miopatia congenita Miopatia congenita con nuclei centrali Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Congenital myopathy with excess of thin Miopatia congenita con eccesso di filamenti filaments sottili Congenital myopathy with excess of thin Miopatia da actina filaments Miopatia congenita con variazione delle Congenital myopathy with fibre size variation dimensioni delle fibre Miopatia congenita con accumulo di Congenital myopathy with protein accumulation proteine Congenital myopathy with vacuoles Miopatia congenita con vacuoli Congenital myopathy, Paradas type Miopatia congenita, tipo Paradas Congenital myotonia Miotonia congenita Congenital or early infantile CACH Sindrome CACH, forma congenita o syndrome precoce dell'infanzia Corneal-cerebellar syndrome Degenerazione spinocerebellare - distrofia corneale Corneal-cerebellar syndrome Sindrome cornea-cervelletto Corneal-cerebellar syndrome Sindrome di Der Kaloustian-Jarudi-Khoury Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Bertini Bertini Bertini Bertini Corpus callosum agenesis neuronopathy Corpus callosum agenesis neuronopathy Corpus callosum agenesis neuronopathy Cree leukoencephalopathy Cylindrical spirals myopathy Dejerine-Sottas syndrome Dejerine-Sottas syndrome Dentatorubral-pallidoluysian atrophy Dentatorubral-pallidoluysian atrophy Dentatorubral-pallidoluysian atrophy Desminopathy Desminopathy Agenesia del corpo calloso - neuropatia Enrico Bertini (06) 6859-2744 [email protected] Malattia di Charlevoix Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Andermann Enrico Bertini (06) 6859-2744 [email protected] Leucoencefalopatia di Cree Miopatia a spirali cilindriche Sindrome di Dejerine-Sottas Malattia di Charcot-Marie-Tooth, tipo 3 Atrofia dentato-rubro-pallido-luisiana DRPLA Malattia di Naito-Oyanagi Desminopatia Miopatia miofibrillare legata alla desmina Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Desmin-related myopathy with Mallory body-like inclusions Desmin-related myopathy with Mallory body-like inclusions Digitotalar dysmorphism Digitotalar dysmorphism Digitotalar dysmorphism Digitotalar dysmorphism Dilated cardiomyopathy with ataxia Miopatia desmina-correlata con inclusioni simil-corpi di Mallory Miopatia desmina-correlata a esordio precoce Dismorfismo digitotalare Artrogriposi distale, tipo 1 DA1 DA1A Cardiomiopatia dilatativa con atassia Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) [email protected] [email protected] e[email protected] [email protected] [email protected] Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 13/270 PatTag (english label) Lbl Dilated cardiomyopathy with ataxia Disorder of sex development intellectual deficit Distal arthrogryposis Distal arthrogryposis type 10 Distal arthrogryposis type 10 Distal arthrogryposis type 10 Distal arthrogryposis type 10 Distal arthrogryposis type 4 Distal arthrogryposis type 4 Distal arthrogryposis type 4 Distal arthrogryposis type 5 Distal arthrogryposis type 5 Distal arthrogryposis type 5 Sindrome DMCA Sindrome di Verloes-Gillerot-Fryns Distal arthrogryposis type 5 Distal arthrogryposis type 6 Distal arthrogryposis type 6 Distal Distal Distal Distal arthrogryposis type 7 arthrogryposis type 7 arthrogryposis type 7 hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 and type 4 Distal hereditary motor neuropathy type 3 and type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy, Jerash type Distal hereditary motor neuropathy, Jerash type Distal myopathy Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior upper limb involvement Distal myopathy with vocal cord weakness Distal myopathy, Nonaka type Distal myopathy, Nonaka type Distal myopathy, Nonaka type Distal myopathy, Nonaka type Distal myopathy, Nonaka type Distal myopathy, Nonaka type Distal myopathy, Welander type Distal spinal muscular atrophy Dopa responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Medico referente Telefono e-mail Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Artrogriposi distale Artrogriposi distale, tipo 10 Contrattura in flessione plantare DA10 Tendine calcaneale corto Artrogriposi distale, tipo 4 Artrogriposi - scoliosi grave Artrogriposi distale, tipo 2D Artrogriposi distale, tipo 5 Amioplasia oculomelica Artrogriposi - oftalmoplegia - retinopatia Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Artrogriposi distale, tipo 2B Artrogriposi distale, tipo 6 Anomalia delle mani simile all'artrogriposi sordità neurosensoriale Artrogriposi distale, tipo 7 Sindrome di Hecht Trisma - pseudocamptodattilia Neuropatia motoria distale ereditaria, tipo Jerash Neuropatia motoria distale ereditaria, tipo 1 Atrofia spinale muscolare distale giovanile, autosomica dominante, tipo 1 Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini HMN-1distale Enrico Bertini (06) 6859-2744 [email protected] Neuropatia motoria distale ereditaria, tipo 2 Atrofia spinale muscolare distale, tipo 2 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] HMN-2 distale Enrico Bertini (06) 6859-2744 [email protected] Neuropatia motoria distale ereditaria, tipo 2A Neuropatia motoria distale ereditaria, tipo 2B Neuropatia motoria distale ereditaria, tipo 3 e tipo 4 HMN-3 distale e HMN-4 distale Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Neuropatia motoria distale ereditaria, tipo 5 Atrofia spinale muscolare distale, tipo 5 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] HMN-5 distale Enrico Bertini (06) 6859-2744 [email protected] Neuropatia motoria distale ereditaria, tipo Enrico Bertini 7 Atrofia spinale muscolare con paralisi delle Enrico Bertini corde vocali HMN-7 distale Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Neuropatia motoria distale ereditaria, tipo 7A Neuropatia motoria distale ereditaria, tipo 7B Neuropatia motoria distale ereditaria, tipo Jerash HMN-J distale Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Miopatia distale Miopatia distale a esordio nella tibia anteriore Miopatia distale con coinvolgimento precoce dei muscoli respiratori Miopatia distale con coinvolgimento della parte posteriore della gamba e della parte anteriore degli arti superiori Miopatia distale con debolezza delle corde vocali Miopatia distale, tipo Nonaka Miopatia che risparmia i quadricipiti Miopatia da corpi inclusi, tipo 2 Miopatia di Nonaka Miopatia distale con vacuoli orlati Miopatia ereditaria da corpi inclusi Miopatia distale, tipo Welander Atrofia muscolare spinale distale Deficit di sepiapterina reduttasi Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Deficit di dopamina beta-idrossilasi Enrico Bertini (06) 6859-2744 [email protected] Dopamine beta-hydroxylase deficiency Deficit di noradrenalina (norepinefrina) Enrico Bertini (06) 6859-2744 [email protected] Dopa-responsive dystonia Dopa-responsive dystonia Dopa-responsive dystonia Drug and/or toxic myopathy Distonia Dopa-sensibile DYT5 Sindrome di Segawa Miopatia di natura farmacologica e/o tossica Enrico Enrico Enrico Enrico (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini 6859-2744 6859-2744 6859-2744 6859-2744 14/270 PatTag (english label) Lbl Medico referente Telefono e-mail Duane anomaly - myopathy - scoliosis Anomalia di Duane - miopatia - scoliosi Enrico Bertini (06) 6859-2744 [email protected] Duane anomaly - myopathy - scoliosis Sindrome di Verloes-Deprez Enrico Bertini (06) 6859-2744 [email protected] Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy Early onset torsion dystonia Early onset torsion dystonia Early onset torsion dystonia Early onset torsion dystonia Early-onset ataxia with dementia Distrofia muscolare di Duchenne e Becker Enrico Bertini (06) 6859-2744 [email protected] Distrofinopatia di Duchenne e Becker Enrico Bertini (06) 6859-2744 [email protected] Distrofia muscolare, tipo Duchenne Distrofinopatia di Duchenne Distonia di torsione a esordio precoce Distonia deformante dei muscoli Distonia di Oppenheim Distonia idiopatica DYT1 Atassia ad esordio precoce con demenza Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Early-onset myopathy with fatal cardiomyopathy Distrofia muscolare di Emery-Dreifuss EDMD Emerinopatia Sclerosi endostale - ipoplasia cerebellare Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Sindrome di Escobar Pterigi multipli Pterigio universale Distrofia facio-scapolo-omerale Distrofia FSH Distrofia muscolare facio-scapolo-omerale Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected]pbg.net [email protected] [email protected] FSHD Miopatia di Landouzy-Dejerine Miopatia facio-scapolo-omerale Polineuropatia amiloide familiare Neuropatia amiloide da TTR Neuropatia amiloide da transtiretina Polineuropatia amiloide da transtiretina Amiloidosi Amiloidosi familiare, tipo Finlandese Disautonomia familiare Neuropatia autonoma e sensoriale ereditaria, tipo 3 Sindrome di Riley-Day Atassia parossistica familiare Atassia episodica, tipo 2 Paraplegia spastica familiare Malattia di Strumpell-Lorrain Paraparesi spastica SPG Mastociti Encefalomiopatia mitocondriale infantile legata a FASTKD2 Deficit infantile fatale di citocromo C ossidasi Cardioencefalomiopatia fatale infantile da deficit di citocromo C ossidasi Deficit del complesso 4 della catena respiratoria mitocondriale Deficit infantile fatale di COX Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Fatal infantile hypertonic myofibrillar myopathy Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Malattia mitocondriale fatale da deficit combinato della fosforilazione ossidativa 3 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Fetal akinesia deformation sequence Fetal akinesia deformation sequence Fingerprint body myopathy Focal dystonia Focal dystonia Focal myositis Foix-Alajouanine syndrome Foix-Alajouanine syndrome Foix-Alajouanine syndrome Foix-Alajouanine syndrome Fatal multiple mitochondrial dysfunction syndrome Difetto dell'ossidazione degli acidi grassi e della chetogenesi con cardiomiopatia dilatativa Difetto dell'ossidazione degli acidi grassi e della chetogenesi con cardiomiopatia ipertrofica Malattia dell'ossidazione degli acidi grassi o della chetogenesi Sequenza dell'acinesia fetale Artrogriposi multipla congenita - ipoplasia polmonare FADS Sindrome di Pena-Shokeir, tipo 1 Miopatia con corpi a ''impronta digitale'' Distonia focale Crampo della scrivano Miosite focale Sindrome di Foix-Alajouanine Malformazione arterovenosa spinale Mielite necrotizzante subacuta Mielite subacuta ascendente necrotizzante Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Foix-Alajouanine syndrome Foix-Alajouanine syndrome Mielomalacia angioipertrofica subacuta Mielopatia angiodisgenetica necrotizzante Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Early-onset myopathy with fatal cardiomyopathy Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Endosteal sclerosis - cerebellar hypoplasia Escobar syndrome Escobar syndrome Escobar syndrome Facioscapulohumeral dystrophy Facioscapulohumeral dystrophy Facioscapulohumeral dystrophy Facioscapulohumeral dystrophy Facioscapulohumeral dystrophy Facioscapulohumeral dystrophy Familial amyloid polyneuropathy Familial amyloid polyneuropathy Familial amyloid polyneuropathy Familial amyloid polyneuropathy Familial amyloid polyneuropathy Familial amyloidosis, Finnish type Familial dysautonomia Familial dysautonomia Familial dysautonomia Familial paroxysmal ataxia Familial paroxysmal ataxia Familial spastic paraplegia Familial spastic paraplegia Familial spastic paraplegia Familial spastic paraplegia Familial spastic paraplegia FASTKD2-related infantile mitochondrial encephalomyopathy Fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Fatal infantile hypertonic myofibrillar myopathy Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 Fatal multiple mitochondrial dysfunction syndrome Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation or ketogenesis disorder Fetal akinesia deformation sequence Fetal akinesia deformation sequence Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 15/270 PatTag (english label) Lbl Foix-Chavany-Marie syndrome Foix-Chavany-Marie syndrome Sindrome di Foix-Chavany-Marie Diplegia facio-faringo-glosso-masticatoria Foix-Chavany-Marie syndrome Telefono e-mail Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Sindrome degli opercoli anteriori bilaterale Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Friedreich ataxia Atassia di Friedreich Friedreich-like ataxia with selective Atassia Friedreich-simile con deficit vitamin E deficiency selettivo di vitamina E AVED Friedreich-like ataxia with selective vitamin E deficiency Deficit isolato di vitamina E Friedreich-like ataxia with selective vitamin E deficiency Deficit isolato familiare di vitamina E Friedreich-like ataxia with selective vitamin E deficiency Atrofia muscolare bulbospinale Generalized bulbospinal muscular atrophy generalizzata Generalized congenital lipodystrophy with Lipodistrofia congenita generalizzata con distrofia muscolare myopathy Generalized congenital lipodystrophy with GCL4 myopathy Genetic cerebellar malformation Malformazione cerebellare genetica Genetic disease of neuromuscular Malattia genetica delle giunzioni junction neuromuscolari Genetic motoneuron disease Malattia delle cellule delle corna anteriori, autosomica dominante o recessiva Genetic neurodegenerative disease Genetic neurological channelopathy Genetic neurological channelopathy of the central nervous system Genetic neurological muscular channelopathy Genetic neuromuscular disease Genetic peripheral neuropathy Genetic posterior fossa malformation Genetic skeletal muscle disease Genetic syndrome with a cerebellar malformation as major feature Global cerebellar malformation Global cerebellar malformation Gordon syndrome Gordon syndrome Gordon syndrome Granulomatous myositis Harding ataxia Harding ataxia Hereditary continuous muscle fiber activity Hereditary continuous muscle fiber activity Hereditary episodic ataxia Hereditary inclusion body myopathy joint contractures - ophthalmoplegia Hereditary inclusion body myopathy joint contractures - ophthalmoplegia Hereditary inclusion body myositis Hereditary myoclonus - progressive distal muscular atrophy Hereditary myoclonus - progressive distal muscular atrophy Hereditary myopathy with early respiratory failure Hereditary neuralgic amyotrophy Hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 2 Aggiornamento 04/12/2012 Medico referente Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Genetic neurodegenerative disease Canalopatia neurologica genetica Canalopatia genetica del sistema nervoso centrale Canalopatia muscolare genetica Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Genetic neuromuscular disease Malattia genetica dei nervi periferici Malformazione genetica della fossa posteriore Malattia genetica del muscolo scheletrico Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome genetica con malformazione cerebellare come segno cardinale Malformazione cerebellare globale Malformazione cerebellare diffusa Sindrome di Gordon Artrogriposi distale, tipo 2A Artrogriposi distale, tipo 3 Miosite granulomatosa Atassia di Harding Atassia cerebellare precoce con conservazione dei riflessi tendinei Ipereccitabilità delle fibre muscolari Enrico Bertini (06) 6859-2744 [email protected]et Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Isaacs Mertens Enrico Bertini (06) 6859-2744 [email protected] Atassia episodica ereditaria Miopatia ereditaria da corpi inclusi contratture articolari - oftalmoplegia Miopatia da corpi inclusi, tipo 3 Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Miosite ereditaria a corpi inclusi Mioclonie - atrofia muscolare distale Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Sindrome di Jankovic-Rivera Enrico Bertini (06) 6859-2744 [email protected] Miopatia ereditaria con insufficienza respiratoria precoce Amiotrofia neurologica ereditaria Neuropatia ereditaria con paralisi da pressione Microdelezione 17p12 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 NHPP Enrico Bertini (06) 6859-2744 [email protected] Neuropatia tomaculare Enrico Bertini (06) 6859-2744 [email protected] Hereditary sensorimotor neuropathy with hyperelastic skin Neuropathy, sensory and autonomic, hereditary Neuropatia autonoma e sensoriale ereditaria, tipo 1 Neuropatia autonoma e sensoriale ereditaria, tipo 1B HSAN con tosse e reflusso gastroesofageo Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] HSAN1B Enrico Bertini (06) 6859-2744 [email protected] Neuropatia autonoma e sensoriale ereditaria tipo 1 - tosse - reflusso gastroesofageo Neuropatia autonoma e sensoriale ereditaria, tipo 2 Acroosteolisi neurogenica Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] HSAN 2 Enrico Bertini (06) 6859-2744 [email protected] 16/270 PatTag (english label) Lbl Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory and autonomic neuropathy with spastic paraplegia Hereditary sensory and autonomic neuropathy with spastic paraplegia Hereditary thermosensitive neuropathy Neuropatia radicolare sensitiva, autosomica recessiva Neuropatia autonoma e sensoriale, tipo 4 Neuropatia termosensibile ereditaria Enrico Bertini (06) 6859-2744 [email protected] Hyaline body myopathy Miopatia con corpi ialini, autosomica dominante Neuropatia ipomielinizzante - artrogriposi Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Boylan-Dew Enrico Bertini (06) 6859-2744 [email protected] Ipomielinizzazione con atrofia dei gangli basali e del cervelletto H-ABC Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Miosite eosinofila idiopatica Miopatia infiammatoria idiopatica IMM Miopatia da corpi inclusi associata alla malattia dell'osso di Paget e demenza frontotemporale Miopatia da inclusione Neuropatia assonale infantile Distrofia neuroassonale infantile INAD INAD1 Malattia di Seitelberger Neurodegenerazione PLA2G6-associata PLAN Distrofia neuroassonale atipica NBIA2 Sindrome di Karak Atassia spinocerebellare a esordio infantile Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] IOSCA Enrico Oftalmoplegia - atassia - ipoacusia Enrico Sindrome di Ohaha Enrico SCA Enrico Infantile-onset autosomal recessive Enrico nonprogressive cerebellar ataxia Miopatia infiammatoria con abbondanza di Enrico macrofagi IMAM Enrico Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Miopatia nemalinica di grado intermedio Sindrome di Isaac Neuromiotonia acquisita Aumento asintomatico isolato dei livelli di creatina fosfochinasi Deficit isolato dell'ATP sintasi Deficit isolato del complesso V della catena respiratoria mitocondriale Ipoplasia cerebellare emisferica bilaterale isolata Ipoplasia/agenesia isolata del cervelletto Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Agenesia isolata del verme cerebellare Enrico Bertini Ipoplasia isolata del verme cerebellare Enrico Bertini Deficit isolato di CoQ-citocromo C reduttasi Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Deficit isolato del complesso 3 della catena respiratoria mitocondriale Deficit isolato di coenzima Q-citocromo C reduttasi Deficit isolato di ubichinone-citocromo C reduttasi Agenesia isolata del corpo calloso Deficit isolato della citocromo C ossidasi Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Isolated cytochrome C oxidase deficiency Deficit isolato del complesso IV della catena respiratoria mitocondriale Isolated cytochrome C oxidase deficiency Deficit isolato di COX Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Isolated Dandy-Walker malformation Malformazione isolata di Dandy-Walker Isolated NADH-CoQ reductase deficiency Deficit isolato di NADH-CoQ reduttasi Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Isolated NADH-CoQ reductase deficiency Deficit isolato del complesso 1 della catena Enrico Bertini respiratoria mitocondriale (06) 6859-2744 [email protected] Hypomyelination neuropathy arthrogryposis Hypomyelination neuropathy arthrogryposis Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with atrophy of basal ganglia and cerebellum Idiopathic eosinophilic myositis Idiopathic inflammatory myopathy Idiopathic inflammatory myopathy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Infantile axonal neuropathy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Infantile onset spinocerebellar ataxia Infantile onset spinocerebellar ataxia Infantile onset spinocerebellar ataxia Infantile onset spinocerebellar ataxia Infantile onset spinocerebellar ataxia Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages Intermediate nemaline myopathy Isaac's syndrome Isaac's syndrome Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated ATP synthase deficiency Isolated bilateral hemispheric cerebellar hypoplasia Isolated cerebellar hypoplasia/agenesis Isolated cerebellar vermis agenesis Isolated cerebellar vermis hypoplasia Isolated CoQ-cytochrome C reductase deficiency Isolated CoQ-cytochrome C reductase deficiency Isolated CoQ-cytochrome C reductase deficiency Isolated CoQ-cytochrome C reductase deficiency Isolated corpus callosum agenesis Isolated cytochrome C oxidase deficiency Aggiornamento 04/12/2012 Medico referente Telefono e-mail Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Neuropatia autonoma e sensoriale ereditaria, tipo 5 HSAN 5 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Insensibilità al dolore congenita Enrico Bertini (06) 6859-2744 [email protected] Neuropatia autonoma e sensoriale ereditaria - sordità - ritardo globale Enrico Bertini (06) 6859-2744 [email protected] HSAN con sordità e ritardo globale Enrico Bertini (06) 6859-2744 [email protected] Neuropatia autonoma e sensoriale ereditaria - paraplegia spastica HSAN con paraplegia spastica Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico 17/270 PatTag (english label) Lbl Isolated NADH-CoQ reductase deficiency Deficit isolato di NADH-coenzima Q reduttasi Isolated NADH-CoQ reductase deficiency Deficit isolato di NADH-ubichinone reduttasi Isolated oxidative phosphorylation Difetto isolato di un complesso della complex disorder fosforilazione ossidativa Difetto isolato di un complesso della Isolated oxidative phosphorylation complex disorder catena respiratoria mitocondriale Agenesia parziale isolata del verme Isolated partial cerebellar vermis agenesis cerebellare Deficit isolato di succinato-CoQ reduttasi Isolated succinate-CoQ reductase deficiency Deficit isolato del complesso 2 della catena Isolated succinate-CoQ reductase deficiency respiratoria mitocondriale Deficit isolato di succinato-coenzima Q Isolated succinate-CoQ reductase deficiency reduttasi Deficit isolato di succinato-ubichinone Isolated succinate-CoQ reductase deficiency reduttasi Isolated total cerebellar vermis agenesis Agenesia completa isolata del verme cerebellare Isolated unilateral hemispheric cerebellar Ipoplasia cerebellare emisferica unilaterale hypoplasia isolata Joubert syndrome Sindrome di Joubert Joubert syndrome CPD IV Joubert syndrome Disturbo cerebelloparenchimale IV Joubert syndrome Sindrome di Joubert classica Joubert syndrome Sindrome di Joubert pura Joubert syndrome Sindrome di Joubert, tipo A Joubert syndrome Sindrome di Joubert-Boltshauser Joubert syndrome Atassia cerebellare autosomica recessiva Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome and related disorders Joubert syndrome and related disorders Medico referente Telefono e-mail Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected].net [email protected] [email protected] JBTS1 JBTS3 JBTS6 JBTS8 JBTS9 Segno del dente molare Sindrome di Joubert 1 Sindrome di Joubert 3 Sindrome di Joubert 6 Sindrome di Joubert 8 Sindrome di Joubert 9 Sindrome di Joubert e sindromi correlate Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] JSRD Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with hepatic defect Joubert syndrome with hepatic defect (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Joubert syndrome with Joubert syndrome with Sindrome di Joubert con difetto epatico Enrico Bertini Ipoplasia del verme cerebellare Enrico Bertini oligofrenia - atassia congenita - coloboma fibrosi epatica hepatic defect Sindrome COACH Enrico Bertini hepatic defect Enrico Bertini Sindrome di Joubert con fibrosi epatica congenita hepatic defect JBTS6 Enrico Bertini hepatic defect JBTS7 Enrico Bertini hepatic defect JBTS9 Enrico Bertini hepatic defect Sindrome di Joubert 6 Enrico Bertini hepatic defect Sindrome di Joubert 7 Enrico Bertini hepatic defect Sindrome di Joubert 9 Enrico Bertini ocular defect Sindrome di Joubert associata a difetto Enrico Bertini oculare ocular defect Sindrome di Joubert associata a Enrico Bertini retinopatia ocular defect JBTS10 Enrico Bertini ocular defect JBTS3 Enrico Bertini ocular defect JBTS5 Enrico Bertini ocular defect JBTS9 Enrico Bertini ocular defect Sindrome di Joubert 10 Enrico Bertini ocular defect Sindrome di Joubert 3 Enrico Bertini ocular defect Sindrome di Joubert 5 Enrico Bertini ocular defect Sindrome di Joubert 9 Enrico Bertini Enrico Bertini oculorenal defect Sindrome di Joubert associata a difetto oculorenale oculorenal defect CORS Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-2744 [email protected] (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-2744 [email protected] Joubert Joubert Joubert Joubert Joubert Joubert Joubert syndrome syndrome syndrome syndrome syndrome syndrome syndrome with with with with with with with Joubert syndrome with Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert Joubert syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome syndrome with with with with with with with with with Joubert syndrome with Joubert syndrome with oculorenal defect Sindrome cerebello-oculo-renale Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect Sindrome di Arima Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect Sindrome di Dekaban-Arima Enrico Bertini (06) 6859-2744 [email protected]bg.net Joubert syndrome with oculorenal defect Sindrome di Joubert associata a sindrome di Senior-Loken Joubert syndrome with oculorenal defect JBTS2 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect JBTS5 Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect JBTS7 Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect Sindrome di Joubert 2 Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect Sindrome di Joubert 5 Enrico Bertini (06) 6859-2744 [email protected] Joubert syndrome with oculorenal defect Sindrome di Joubert 7 Enrico Bertini (06) 6859-2744 [email protected] Aggiornamento 04/12/2012 18/270 PatTag (english label) Lbl Medico referente Telefono e-mail Juvenile or adult CACH syndrome Sindrome CACH, forma giovanile o adulta Enrico Bertini (06) 6859-2744 [email protected] Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis Kalyanaraman syndrome Kearns-Sayre syndrome Kearns-Sayre syndrome Kennedy disease Kennedy disease Kennedy disease Kennedy disease Kennedy disease King-Denborough syndrome King-Denborough syndrome Komar syndrome Komar syndrome Sclerosi laterale primitiva giovanile PLS giovanile Artrogriposi - miopatia - convulsioni Sindrome di Kearns-Sayre Insufficienza surrenalica primaria Malattia di Kennedy Amiotrofia bulbospinale legata all'X Atrofia muscolare bulbospinale Atrofia muscolare spinale e bulbare SBMA Sindrome di King-Denborough Sindrome di Koussef-Nichols Sindrome di Komae Sindrome del muscolo retto dell'addome Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Komar syndrome Laing distal myopathy Laing distal myopathy Laing distal myopathy Sindrome del nervo intercostale Miopatia distale di Laing MPD1 Miopatia distale di Laing a esordio precoce Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Laing distal myopathy Lambert-Eaton myasthenic syndrome Late infantile CACH syndrome Miopatia distale, tipo 1 Sindrome miastenica di Lambert-Eaton Sindrome CACH, forma tarda dell'infanzia Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Late-onset ataxia with dementia Leigh syndrome Leigh syndrome Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Leigh syndrome Leigh syndrome with Leigh syndrome with Atassia a esordio tardivo con demenza Sindrome di Leigh Encefalomiopatia necrosante infantile subacuta Malattia di Leigh cardiomyopathy Sindrome di Leigh associata a miopatia cardiomyopathy Cardiomiopatia con ipotonia da deficit di citocromo C ossidasi cardiomyopathy Cardiomiopatia con miopatia da deficit di COX cardiomyopathy Malattia di Leigh associata a miopatia leukodystrophy Sindrome di Leigh con leucodistrofia leukodystrophy Encefalopatia necrotizzante subacuta infantile con leucodistrofia leukodystrophy Malattia di Leigh con leucodistrofia nephrotic syndrome Sindrome di Leigh con sindrome nefrosica Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Leigh syndrome with Leigh syndrome with Leigh syndrome with Leigh syndrome with Leigh syndrome with Leigh syndrome with Leigh syndrome with nephrotic syndrome Encefalopatia necrotizzante subacuta infantile con sindrome nefrosica Leigh syndrome with nephrotic syndrome Malattia di Leigh con sindrome nefrosica Lethal arthrogryposis - anterior horn cell disease Lethal arthrogryposis - anterior horn cell disease Lethal ataxia with deafness and optic atrophy Lethal ataxia with deafness and optic atrophy Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 3 Lethal infantile mitochondrial myopathy Enrico Bertini (06) 6859-2744 [email protected] Artrogriposi letale con malattia delle cellule Enrico Bertini delle corna anteriori Malattia di Vuopala Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Atassia - atrofia ottica - sordità - letalità Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Arts Enrico Bertini (06) 6859-2744 [email protected] Sindrome da contratture congenite letali, tipo 1 Malattia di Herva Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome da contratture multiple, tipo Finlandese LCCS Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome da contratture congenite letali, tipo 2 Sindrome da contratture multiple, tipo Istraeliano-Beduino LCCS Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Sindrome da contratture congenite letali, tipo 3 LCCS Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Miopatia mitocondriale infantile letale Enrico Bertini (06) 6859-2744 [email protected] Lethal infantile mitochondrial myopathy LIMD Enrico Bertini (06) 6859-2744 [email protected] Lethal infantile mitochondrial myopathy Malattia mitocondriale infantile letale Enrico Bertini (06) 6859-2744 [email protected] Lewis-Sumner syndrome Lewis-Sumner syndrome Lewis-Sumner syndrome Limb dystonia Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Macrophagic myofasciitis Macrophagic myofasciitis Madras motor neuron disease Madras motor neuron disease Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Sindrome di Lewis-Sumner MADSAM Neuropatia Distonia degli arti Distrofia muscolare dei cingoli LGMD Malattia di Machado-Joseph, tipo 1 Malattia di Machado-Joseph, tipo 2 Malattia di Machado-Joseph, tipo 3 Miofascite macrofagica MMF Malattia dei motoneuroni di Madras MMND Malformazione degli emisferi cerebellari Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Malformazione del verme cerebellare Enrico Bertini (06) 6859-2744 [email protected] Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 19/270 PatTag (english label) Lbl Medico referente Telefono e-mail (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Malignant hyperthermia Ipertermia maligna Malignant hyperthermia Iperpiressia maligna Malignant hyperthermia Ipertermia da anestesia Malignant hyperthermia Miopatia da farmaci anestetici Malignant hyperthermia Miopatia farmacogenetica da anestesia Malignant hyperthermia - arthrogryposis - Ipertermia maligna - artrogriposi torcicollo torticollis Malignant hyperthermia - arthrogryposis - Sindrome di Froster-Iskenius -Waterson torticollis Maternally-inherited Leigh syndrome Sindrome di Leigh a trasmissione materna Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini (06) 6859-2744 [email protected] Maternally-inherited Leigh syndrome Encefalopatia necrotizzante subacuta infantile a trasmissione materna MILS Malattia di Leigh a trasmissione materna Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Mirhosseini-Holmes-Walton syndrome Cardiomiopatia dilatativa mitocondriale a trasmissione materna Distonia mitocondriale a trasmissione materna Cardiomiopatia ipertrofica mitocondriale a trasmissione materna Miopatia mitocondriale a trasmissione materna Sindrome MERRF Epilessia mioclonica con fibre rosse sfilacciate Miopatia nemalinica di grado lieve Sindrome di Mills Sclerosi laterale amiotrofica, tipo emiplegico Sindrome di Morhosseini-Holmes-Walton Enrico Bertini (06) 6859-2744 [email protected] Mirhosseini-Holmes-Walton syndrome Retinopatia pigmentosa - ritardo mentale Enrico Bertini (06) 6859-2744 [email protected] Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Sindrome da deplezione del DNA Enrico Bertini mitocondriale, forma miopatica Sindrome da deplezione del mtDNA, forma Enrico Bertini miopatica Miopatia mitocondriale Enrico Bertini MLASA Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] MSA Enrico Bertini (06) 6859-2744 [email protected] Miopatia - acidosi lattica - anemia sideroblastica Miopatia mitocondriale con deficit reversibile della citocromo C ossidasi Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Miopatia mitocondriale con deficit reversibile del complesso IV Enrico Bertini (06) 6859-2744 [email protected] Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Miopatia mitocondriale con deficit reversibile di COX Enrico Bertini (06) 6859-2744 [email protected] Mixed dystonia Miyoshi myopathy Moderate multiminicore disease with hand involvement Monomelic amyotrophy Monomelic amyotrophy Monomelic amyotrophy Distonie miste Miopatia di Miyoshi Malattia ''multiminicore'' attenuata con interessamento della mano Amiotrofia monomelica Amiotrofia focale benigna Atrofia muscolare dell'arto superiore distale giovanile Malattia di Hirayama Malattia dei motoneuroni Malattia delle cellule delle corna anteriori Fibrosi muscolare multifocale - ostruzione dei vasi Miopatia "multiminicore" Sindrome muscolo-occhio-cervello Malattia di Santavuori Sindrome MEB Lissencefalia, tipo 2 Malattia della filamina Atrofia muscolare - atassia - retinite pigmentosa - diabete mellito Sindrome di Furukawa-Takagi-Nakao Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] (06) 6859-2744 [email protected] Maternally-inherited Leigh syndrome Maternally-inherited Leigh syndrome Maternally-inherited mitochondrial dilated cardiomyopathy Maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial hypertrophic cardiomyopathy Maternally-inherited mitochondrial myopathy MERRF syndrome MERRF syndrome Mild nemaline myopathy Mills syndrome Mills syndrome Monomelic amyotrophy Motoneuron disease Motoneuron disease Multifocal muscular fibrosis - obstructed vessels Multiminicore myopathy Muscle eye brain disease Muscle eye brain disease Muscle eye brain disease Muscle eye brain disease Muscle filaminopathy Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus Muscular channelopathy Muscular dystrophy Muscular dystrophy - white matter spongiosis Muscular dystrophy, Selcen type Muscular glycogenosis Muscular glycogenosis Muscular lipidosis Muscular lipidosis Musculoskeletal disease with cataract Myasthenia gravis Myasthenia gravis Myasthenia gravis Myasthenic syndrome with eye involvement Myoclonic dystonia Aggiornamento 04/12/2012 Canalopatia muscolare Distrofia muscolare Distrofia muscolare sostanza bianca cerebrale sponfiosa Distrofia muscolare, tipo Selcen Glicogenosi muscolare Miopatia da accumulo di glicogeno Lipidosi muscolare Miopatia da accumulo di lipidi Cataratta associata a malattia muscoloscheletrica Miastenia grave Miastenia acquisita Miastenia grave autoimmune Sindrome miastenica associata a malattia oculare Distonia mioclonica Bertini Bertini Bertini Bertini Bertini Bertini Enrico Bertini 20/270 PatTag (english label) Lbl Myoclonic dystonia Myoclonic dystonia Myoclonic dystonia Myoclonic dystonia 15 Myoclonic dystonia 15 Myoclonus - cerebellar ataxia - deafness DYT11 Distonia sensibile all'alcol Sindrome distonia-mioclono Distonia mioclonica 15 DYT15 Mioclonia - atassia cerebellare - sordità Enrico Enrico Enrico Enrico Enrico Enrico Myophosphorylase deficiency Myophosphorylase deficiency Myophosphorylase deficiency Myophosphorylase deficiency Myophosphorylase deficiency Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency Myopathy with eye involvement Myopathy with hexagonally cross-linked tubular arrays Myosclerosis Myostatin-related muscle hypertrophy Deficit di miofosforilasi GSD, tipo 5 Glicogenosi, tipo 5 Malattia da deposito di glicogeno, tipo 5 Malattia di McArdle Miopatia miofibrillare Miopatia da sovraccarico di calsequestrina e proteina SERCA1 Miopatia da deficit di fosfoglicerato mutasi Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini (06) 6859-2744 [email protected] Deficit di fosfoglicerato mutasi muscolare Enrico Bertini (06) 6859-2744 [email protected] Miopatia con malattia oculare Enrico Bertini Miopatia con strutture tubulari incrociate in Enrico Bertini modo esagonale Myosclerosis Enrico Bertini Ipertrofia muscolare associata alla Enrico Bertini miostatina Miopatia miofibrillare associata alla Enrico Bertini miotilina senza corpi sferoidi Miotilinopatia Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Myotilin-related myofibrillar myopathy without spheroid body Myotilin-related myofibrillar myopathy without spheroid body Myotonia fluctuans Myotonia fluctuans Myotonia fluctuans Medico referente Telefono e-mail Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Myotonia permanens Myotonic dystrophy Myotonic dystrophy type 3 Myotonic syndrome Nakajo-Nishimura syndrome Nakajo-Nishimura syndrome Miotonia fluctuans Miotonia fluttuante Miotonia indotta dall'esercizio a esordio ritardato Miotonia permanente Distrofia miotonica Distrofia miotonica, tipo 3 Sindrome miotonica Sindrome di Nakajo-Nishimura Amiotrofia - anomalia del tessuto adiposo Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] NARP syndrome NARP syndrome Sindrome NARP Neuropatia - atassia - retinite pigmentosa Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Nemaline myopathy Nemaline myopathy Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation Neurogenic arthrogryposis multiplex congenita Neuromuscular disease Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neutral lipid storage disease Neutral lipid storage myopathy Neutral lipid storage myopathy Miopatia nemalinica Miopatia dei bastoncelli Neurodegenerazione con accumulo cerebrale di ferro NBIA Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Artrogriposi congenita multipla, tipo neurogeno Malattia neuromuscolare Malattia neuromuscolare con cardiomiopatia dilatativa Malattia delle giunzioni neuromuscolari Lipidosi con sovraccarico di trigliceridi Miopatia da deposito di lipidi neutri Malattia da deposito di lipidi neutri con miopatia senza ittiosi Neutral lipid storage myopathy NLSDM Non-dystrophic myopathy Miopatia non distrofica Non-hereditary degenerative ataxia Atassia degenerativa non ereditaria Oculogastrointestinal muscular dystrophy Distrofia muscolare oculogastrointestinale Oculogastrointestinal muscular dystrophy Miopatia viscerale familiare - oftalmoplegia esterna Distrofia muscolare oculofaringea OPMD Miopatia oculo-faringo-distale Oftalmoplegia - mialgia - aggregati tubulari Sindrome di O'Sullivan-McLeod Altre forme di debolezza muscolare e/o dolore muscolare cronico Altra miopatia non distrofica associata a difetto del collagene 6 Miosite da sovrapposizione Paramiotonia congenita di Von Eulenburg Oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Ophthalmoplegia - myalgia - tubular aggregates O'Sullivan-McLeod syndrome Other muscle weakness and/or chronic muscle pain Other non-dystrophic myopathy with collagen 6 anomaly Overlap myositis Paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg Parsonage-Turner syndrome Parsonage-Turner syndrome PEHO syndrome PEHO syndrome PEHO-like syndrome Peripheral motor neuropathy dysautonomia Peripheral motor neuropathy dysautonomia Peripheral neuropathy associated with monoclonal gammopathy Peripheral neuropathy associated with monoclonal gammopathy Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Paramiotonia congenita Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Parsonage-Turner Amiotrofia neurogena della spalla Sindrome PEHO Encefalopatia progressiva - atrofia ottica Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Sindrome PEHO-simile Neuropatia motoria periferica disautonomia Sindrome di Lisker-Garcia-Ramos Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Neuropatia periferica associata a gammopatia monoclonale Polineuropatia assonale associata a gammopatia monoclonale IgG/IgM/IgA Bertini Bertini Bertini Bertini 21/270 PatTag (english label) Lbl Medico referente Telefono e-mail Peripheral neuropathy, Fiskerstrand type Neuropatia periferica, tipo Fiskerstrand Enrico Bertini (06) 6859-2744 [email protected] Peripheral neuropathy, Fiskerstrand type PHARC Enrico Bertini (06) 6859-2744 [email protected] Peripheral neuropathy, Fiskerstrand type Polineuropatia - perdita dell'udito - atassia - Enrico Bertini retinite pigmentosa - cataratta (06) 6859-2744 [email protected] Pontine tegmental cap dysplasia Pontine tegmental cap dysplasia Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 3 Displasia del tegmento pontino PTCD Ipoplasia pontocerebellare, tipo 1 Sindrome di Young-McKeever-Squier Ipoplasia pontocerebellare, tipo 2 Ipoplasia pontocerebellare, tipo 3 Atrofia cerebellare con microcefalia progressiva IPC con atrofia ottica IPC senza discinesia Ipoplasia pontocerebellare, tipo 4 Encefalopatia infantile fatale con ipoplasia olivopontocerebellare Ipoplasia pontocerebellare, tipo 5 Ipoplasia olivopontocerebellare a esordio fetale Ipoplasia pontocerebellare, tipo 6 Encefalopatia infantile fatale con difetti della catena respiratoria mitocondriale Pontocerebellar hypoplasia type 7 Atassia del cordone posteriore - retinite pigmentosa Atassia del cordone posteriore - retinite pigmentosa autosomica recessiva PCARP Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Malformazione della fossa posteriore Sindromi miasteniche congenite postsinaptiche Miotonia aggravata dal potassio Miotonia aggravata dal K+ Miotonia aggravata dal KPAM Sindromi miasteniche congenite presinaptiche Distonia primaria, tipo DYT13 DYT13 Distonia primaria con fenotipo misto Distonia primaria di torsione a esordio prevalentemente craniocervicale o dell'arto superiore Distonia primaria segmentale craniocervicale a esordio precoce Distonia primaria, tipo DYT2 Distonia primaria, tipo DYT4 Distonia primaria, tipo DYT6 DYT6 Distonia idiopatica di torsione, tipo "misto" Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Progressive cerebello-cerebral atrophy Sclerosi laterale primitiva PLS PLS a esordio nell'età adulta Sclerosi laterale primitiva a esordio nell'età adulta Atrofia cerebello-cerebrale progressiva Enrico Bertini (06) 6859-2744 [email protected] Progressive cerebello-cerebral atrophy PCCA Enrico Bertini (06) 6859-2744 [email protected] Progressive demyelinating neuropathy with bilateral striatal necrosis Progressive muscular dystrophy Proximal myotonic myopathy Proximal myotonic myopathy Proximal myotonic myopathy Proximal myotonic myopathy Proximal myotonic myopathy Proximal spinal muscular atrophy Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 1 Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Proximal spinal muscular atrophy type 1 Neuropatia demielinizzante progressiva con necrosi striatale bilaterale Distrofia muscolare progressiva Miopatia miotonica prossimale Distrofia miotonica prossimale Distrofia miotonica, tipo 2 Malattia di Ricker Sindrome di Ricker Atrofia muscolare spinale prossimale SMA Atrofia muscolare spinale prossimale, tipo 1 Atrofia muscolare spinale infantile Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 1 Malattia di Werdnig-Hoffmann Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 1 SMA-I Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 1 SMA1 Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 2 Atrofia muscolare spinale prossimale, tipo 2 Atrofia muscolare spinale cronica Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 2 Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 2 Atrofia muscolare spinale infantile cronica Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 2 Atrofia muscolare spinale intermedia Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 2 SMA-II Enrico Bertini (06) 6859-2744 [email protected] Pontocerebellar Pontocerebellar Pontocerebellar Pontocerebellar hypoplasia hypoplasia hypoplasia hypoplasia type type type type 3 3 4 4 Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 7 Posterior column ataxia - retinitis pigmentosa Posterior column ataxia - retinitis pigmentosa Posterior column ataxia - retinitis pigmentosa Posterior fossa malformation Postsynaptic congenital myasthenic syndromes Potassium-aggravated myotonia Potassium-aggravated myotonia Potassium-aggravated myotonia Potassium-aggravated myotonia Presynaptic congenital myasthenic syndromes Primary dystonia, DYT13 type Primary dystonia, DYT13 type Primary dystonia, DYT13 type Primary dystonia, DYT13 type Primary dystonia, DYT13 type Primary Primary Primary Primary Primary dystonia, dystonia, dystonia, dystonia, dystonia, Primary Primary Primary Primary lateral lateral lateral lateral DYT2 DYT4 DYT6 DYT6 DYT6 type type type type type sclerosis sclerosis sclerosis sclerosis Aggiornamento 04/12/2012 Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 22/270 PatTag (english label) Lbl Proximal spinal muscular atrophy type 2 SMA2 Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 3 Atrofia muscolare spinale prossimale, tipo 3 Atrofia muscolare spinale giovanile Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 3 Medico referente Telefono e-mail Proximal spinal muscular atrophy type 3 Malattia di Kugelberg-Welander Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 3 SMA-III Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 3 SMA3 Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 4 Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 4 Atrofia muscolare spinale prossimale, tipo 4 Atrofia muscolare spinale dell'adulto Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 4 SMA-IV Enrico Bertini (06) 6859-2744 [email protected] Proximal spinal muscular atrophy type 4 SMA4 Enrico Bertini (06) 6859-2744 [email protected] Pudendal neuralgia Pudendal neuralgia Pudendal neuralgia Pudendal neuralgia Pudendal neuralgia Pure familial spastic paraplegia Nevralgia del nervo pudendo Algia del pudendo Intrappolamento del nervo pudendo Neuropatia del pudendo Sindrome di Alcock Paraplegia spastica ereditaria, forma pura Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Pure mitochondrial myopathy Pure spastic paraplegia type 2 Qazi-Markouizos syndrome Qazi-Markouizos syndrome Miopatia mitocondriale pura Enrico Pure spastic paraplegia type 2 Enrico Sindrome di Qazi-Markouizos Enrico Enrico Mutazione ossea disarmonica - anomalie delle fibre muscolari Alterazioni qualitative o quantitative di alfa- Enrico actina Alterazioni qualitative o quantitative di alfa Enrico B-cristallina Alterazioni qualitative o quantitative Enrico dell'alfa-sarcoglicano Alterazioni qualitative o quantitative della Enrico catena pesante della beta-miosina (MYH7) Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Qualitative or quantitative defects alpha-actin Qualitative or quantitative defects alphaB-cristallin Qualitative or quantitative defects alpha-sarcoglycan Qualitative or quantitative defects beta-myosin heavy chain (MYH7) of of of of Qualitative or quantitative defects of beta-sarcoglycan Qualitative or quantitative defects of calpaïn Qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of collagen 6 Qualitative or quantitative defects of delta-sarcoglycan Qualitative or quantitative defects of desmin Qualitative or quantitative defects of dysferlin Qualitative or quantitative defects of dystrophin Qualitative or quantitative defects of emerin Qualitative or quantitative defects of emerin Qualitative or quantitative defects of filamin C Qualitative or quantitative defects of FKRP Qualitative or quantitative defects of fukutin Qualitative or quantitative defects of gamma-sarcoglycan Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2epimerase/N-acetylmannosamine kinase Qualitative or quantitative defects of integrin alpha-7 Qualitative or quantitative defects of merosin Qualitative or quantitative defects of myofibrillar proteins Qualitative or quantitative defects of myotilin Qualitative or quantitative defects of myotubularin Qualitative or quantitative defects of nebulin Qualitative or quantitative defects of perlecan Qualitative or quantitative defects of plectin Qualitative or quantitative defects of protein glycosyltransferase-like Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Aggiornamento 04/12/2012 Qualitative or quantitative defects of betasarcoglycan Qualitative or quantitative defects of calpaïn Qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of collagen 6 Qualitative or quantitative defects of deltasarcoglycan Alterazioni qualitative o quantitative di desmina Qualitative or quantitative defects of dysferlin Qualitative or quantitative defects of dystrophin Difetti qualitativi o quantitativi dell'emerina Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Emerinopatia Enrico Bertini (06) 6859-2744 [email protected] Alterazioni qualitative o quantitative di Enrico Bertini filamina C Qualitative or quantitative defects of FKRP Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Qualitative or quantitative defects of Enrico Bertini fukutin Qualitative or quantitative defects of Enrico Bertini gamma-sarcoglycan Alterazioni qualitative o quantitative della Enrico Bertini glucosamina (UDP-N-acetil)-2-epimerasi/N- acetilmannosamina chinasi (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Bertini (06) 6859-2744 [email protected] Qualitative or quantitative defects of Enrico integrin alpha-7 Qualitative or quantitative defects of Enrico merosin Alterazioni qualitative o quantitative delle Enrico proteine miofibrillari Alterazioni qualitative o quantitative di Enrico miotilina Qualitative or quantitative defects of Enrico myotubularin Alterazioni qualitative o quantitative di Enrico nebulina Qualitative or quantitative defects of Enrico perlecan Alterazioni qualitative o quantitative di Enrico plectina Alterazioni qualitative o quantitative della Enrico proteina glicosiltransferasi-like Qualitative or quantitative defects of Enrico protein involved in O-glycosylation of alphadystroglycan 23/270 PatTag (english label) Qualitative or quantitative defects protein O-mannose beta1,2Nacetylglucosaminyltransferase Qualitative or quantitative defects protein O-mannose beta1,2Nacetylglucosaminyltransferase Qualitative or quantitative defects protein O-mannosyltransferase 1 Qualitative or quantitative defects protein O-mannosyltransferase 2 Qualitative or quantitative defects protein SERCA1 Qualitative or quantitative defects protein ZASP Qualitative or quantitative defects sarcoglycan Qualitative or quantitative defects sarcoglycan Qualitative or quantitative defects selenoprotein N1 Qualitative or quantitative defects telethonin Qualitative or quantitative defects Lbl Telefono e-mail Alterazioni qualitative o quantitative della proteina O-mannosio beta1,2N-acetil glucosamina transferasi Alterazioni qualitative o quantitative della proteina POMGNT1 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Alterazioni qualitative o quantitative proteina O-mannosil-transferasi 1 Alterazioni qualitative o quantitative proteina O-mannosil-transferasi 2 Alterazioni qualitative o quantitative proteina SERCA1 Alterazioni qualitative o quantitative proteina ZASP Alterazioni qualitative o quantitative sarcoglicani Sarcoglicanopatia della Enrico Bertini (06) 6859-2744 [email protected] della Enrico Bertini (06) 6859-2744 [email protected] della Enrico Bertini (06) 6859-2744 [email protected] della Enrico Bertini (06) 6859-2744 [email protected] dei Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Alterazioni qualitative o quantitative della selenoproteina N1 Alterazioni qualitative o quantitative di of telethonina of titin Alterazioni qualitative o quantitative di titina Qualitative or quantitative defects of Qualitative or quantitative defects of TRIM32 TRIM32 Qualitative or quantitative defects of Qualitative or quantitative defects of tropomyosin tropomyosin Qualitative or quantitative defects of Qualitative or quantitative defects of troponin troponin Qualitative or quantitative protein Alterazioni quantitative o qualitative delle defects in neuromuscular diseases proteine nelle malattie neuromuscolari Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Ramsay-Hunt syndrome Ramsay-Hunt syndrome Rare ataxia Rare disease in anaesthesiology Sindrome di Ramsay-Hunt Mioclonia - atassia Atassia cerebellare rara Malattia rara d'interesse anestesiologico Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Rare disease with corpus callosum agenesis associated with peripheral neuropathy Rare dystonia Rare hereditary ataxia Rare hereditary disease with peripheral neuropathy Rare hereditary neurologic disease with peripheral neuropathy Rare hereditary systemic disease with peripheral neuropathy Rare movement disorder Rare neurodegenerative disease Rare peripheral neuropathy Recessive mitochondrial ataxic syndrome Malattia rara con agenesia del corpo calloso associata a neuropatia periferica Enrico Bertini (06) 6859-2744 [email protected] Malattia distonica Atassia ereditaria rara Malattia ereditaria rara con neuropatia periferica Malattia neurologica ereditaria rara con neuropatia periferica Malattia sistemica ereditaria rara con neuropatia periferica Malattia motoria rara Rare neurodegenerative disease Malattia dei nervi periferici Sindrome da atassia mitocondriale, autosomica recessiva Recessive mitochondrial ataxic syndrome MIRAS Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Recessive mitochondrial ataxic syndrome Atassia cerebellare autosomica recessiva Enrico Bertini (06) 6859-2744 [email protected] Reducing body myopathy Miopatia con ''corpi ridotti'' Rippling muscle disease Miopatia con muscolatura increspata Rippling muscle disease with myasthenia Malattia da increspatura muscolare con gravis miastenia grave Rippling muscle disease with myasthenia Malattia immunomediata da increspatura gravis muscolare Rippling muscle disease with myasthenia Miopatia con increspatura muscolare con gravis miastenia gravis Roussy-Levy syndrome Sindrome di Roussy-Levy Roussy-Levy syndrome Distasia areflessica ereditaria, tipo RoussyLevy Malattia di Saguenay-Lac-St. Jean da Saguenay-Lac-St. Jean cytochrome oxidase deficiency deficit di citocromo ossidasi Deficit di COX, tipo Franco-Canadese Saguenay-Lac-St. Jean cytochrome oxidase deficiency Deficit di SLSJ-COX Saguenay-Lac-St. Jean cytochrome oxidase deficiency Deficit di citocromo C ossidasi, tipo FrancoSaguenay-Lac-St. Jean cytochrome oxidase deficiency Canadese Sindrome di Leigh, tipo Franco-Canadese Saguenay-Lac-St. Jean cytochrome oxidase deficiency Sindrome di Leigh, tipo Saguenay-Lac-St. Saguenay-Lac-St. Jean cytochrome oxidase deficiency Jean Scapuloperoneal amyotrophy Amiotrofia scapoloperoneale Scapuloperoneal amyotrophy Sindrome di Kaeser Scapuloperoneal amyotrophy Sindrome di Stark-Kaeser Scapuloperoneal amyotrophy Sindrome scapoloperoneale, tipo neurogeno Sensory neuropathy - spastic paraplegia Neuropatia sensoriale ereditaria paraplegia spastica Severe congenital nemaline myopathy Miopatia nemalinica congenita grave Severe early-onset axonal neuropathy Neuropatia assonale grave a esordio due to NEFL deficiency precoce da deficit di NEFL Severe early-onset axonal neuropathy Neuropatia assonale grave a esordio due to NEFL deficiency precoce da deficit della subunità dei neurofilamenti a catena leggera Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Aggiornamento 04/12/2012 of Medico referente of of of of of of of of Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Bertini Bertini Bertini Bertini 24/270 PatTag (english label) Lbl Severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy Encefalomiopatia mitocondriale grave legata all'X Encefalomiopatia mitocondriale da COXPD6 Encefalomiopatia mitocondriale da deficit combinato della fosforilazione ossidativa 6 Sheldon-Hall Sheldon-Hall Sheldon-Hall Sheldon-Hall Sindrome di Sheldon-Hall Artrogriposi distale, tipo 2 Artrogriposi distale, tipo 2B Variante della sindrome di FreemanSheldon Malattia dei muscoli scheletrici Atassia spastica - distrofia corneale Atassia spastica - anomalie oculari Sindrome da atassia spastica, tipo Beduino syndrome syndrome syndrome syndrome Skeletal muscle Spastic ataxia Spastic ataxia Spastic ataxia - disease corneal dystrophy corneal dystrophy corneal dystrophy Spastic ataxia - corneal dystrophy Spastic ataxia with congenital miosis Spastic ataxia, Charlevoix-Saguenay type Spastic ataxia, Charlevoix-Saguenay type Spastic diplegia, infantile type Spastic diplegia, infantile type Spastic paraplegia - facial-cutaneous lesions Spastic paraplegia - facial-cutaneous lesions Spastic paraplegia - glaucoma intellectual deficit Spastic paraplegia - glaucoma intellectual deficit Spastic paraplegia - nephritis - deafness Medico referente Telefono e-mail Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 en[email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Sindrome di Mousa-Al Din-Al Nassar Enrico Bertini Atassia spastica congenita Enrico Bertini Atassia spastica, tipo Charlevoix-Saguenay Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] ARSACS Enrico Bertini (06) 6859-2744 [email protected] Diplegia spastica, tipo infantile Sindrome di Little Paraplegia spastica - lesioni cutanee facciali Sindrome di Bahemuka-Brown Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica - glaucoma - ritardo mentale Ritardo mentale Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Paraplegia spastica - nefropatia - sordità Enrico Bertini (06) 6859-2744 [email protected] Spastic paraplegia - nephritis - deafness Sindrome di Fitzsimmons-Walson-Mellor Enrico Bertini (06) 6859-2744 [email protected] Spastic paraplegia - neuropathy poikiloderma Spastic paraplegia - neuropathy poikiloderma Spastic paraplegia - precocious puberty Paraplegia spastica - neuropatia poichilodermia Sindrome di Antinolo-Nieto-Borrego Enrico Bertini (06) 6859-2744 [email protected] Spastic paraplegia type 2 Spastic paraplegia type 2 Spheroid body myopathy Spheroid body myopathy Spinal atrophy - ophthalmoplegia pyramidal syndrome Spinal atrophy - ophthalmoplegia pyramidal syndrome Spinal muscular atrophy - Dandy-Walker complex - cataracts Spinal muscular atrophy associated with central nervous system anomaly Spinal muscular atrophy with respiratory distress Spinocerebellar ataxia - dysmorphism Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 with axonal neuropathy Spinocerebellar ataxia type 1 with axonal neuropathy Spinocerebellar ataxia type 1 with axonal neuropathy Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 22 Aggiornamento 04/12/2012 Paresi spastica - glaucoma - pubertà precoce Paraplegia spastica legata all'X, tipo 2 SPG2 Miopatia a corpi sferoidi Miotilinopatia Atrofia spinale - oftalmoplegia - sindrome piramidale Sindrome di Hamano-Tsukamoto Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Bertini Bertini Bertini Bertini Bertini Enrico Bertini (06) 6859-2744 [email protected] Atrofia muscolare spinale - complesso di Dandy-Walker - cataratta Atrofia muscolare spinale associata ad alterazione del sistema nervoso centrale Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atrofia muscolare spinale associata a insufficienza respiratoria (SMARD) Atassia spinocerebellare - dismorfismi Atassia spinocerebellare, tipo 1 SCA1 Atassia spinocerebellare associata a neuropatia assonale, tipo 1 SCAN1 Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atassia cerebellare autosomica recessiva Enrico Bertini (06) 6859-2744 [email protected] Atassia SCA10 Atassia SCA11 Atassia SCA12 Atassia SCA13 Atassia SCA14 Atassia SCA15 Atassia SCA16 Atassia SCA17 Atassia SCA18 Atassia SCA19 Atassia SCA2 Atassia SCA20 Atassia SCA21 Atassia SCA22 Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] spinocerebellare, tipo 10 spinocerebellare, tipo 11 spinocerebellare, tipo 12 spinocerebellare, tipo 13 spinocerebellare, tipo 14 spinocerebellare, tipo 15 spinocerebellare, tipo 16 spinocerebellare, tipo 17 spinocerebellare, tipo 18 spinocerebellare, tipo 19 spinocerebellare, tipo 2 spinocerebellare, tipo 20 spinocerebellare, tipo 21 spinocerebellare, tipo 22 Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 25/270 PatTag (english label) Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar Spinocerebellar ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia ataxia type type type type type type type type type type type type type type type type type type type type type Lbl 23 23 25 25 26 26 27 27 28 28 29 29 3 3 3 30 30 31 31 32 32 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with epilepsy Spinocerebellar ataxia with epilepsy Spinocerebellar ataxia with oculomotor anomaly Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly Sporadic inclusion body myositis Sporadic Leigh syndrome Sporadic Leigh syndrome Atassia spinocerebellare, tipo 23 SCA23 Atassia spinocerebellare, tipo 25 SCA25 Atassia spinocerebellare, tipo 26 SCA26 Atassia spinocerebellare, tipo 27 SCA27 Atassia spinocerebellare, tipo 28 SCA28 Atassia spinocerebellare, tipo 29 SCA29 Atassia spinocerebellare, tipo 3 Malattia di Machado-Joseph SCA3 Atassia spinocerebellare, tipo 30 SCA30 Atassia spinocerebellare, tipo 31 SCA31 Atassia spinocerebellare, tipo 32 Atassia cerebellare con azoospermia e deficit cognitivo SCA32 Atassia cerebellare con azoospermia e ritardo mentale Atassia spinocerebellare, tipo 35 SCA35 Atassia spinocerebellare, tipo 36 SCA36 Atassia spinocerebellare, tipo 4 SCA4 Atassia spinocerebellare, tipo 5 SCA5 Atassia spinocerebellare, tipo 6 SCA6 Atassia spinocerebellare, tipo 8 SCA8 Atassia spinocerebellare associata a neuropatia assonale, tipo 2 Atassia - aprassia oculomotoria, tipo 2 (AOA2) SCAN 2 SCAR1 Atassia spinocerebellare con epilessia SCAE Atassia spinocerebellare con anomalia oculomotoria Degenerazione spinocerebellare e paraparesi spastica con anomalia oculomotoria Miosite da inclusioni Sindrome di Leigh sporadica Encefalopatia necrotizzante subacuta infantile sporadica Sporadic Leigh syndrome Malattia di Leigh sporadica Sporadic or paraneoplastic Malattia sporadica o paraneoplastica delle neuromuscular junction disease giunzioni neuromuscolari Steinert myotonic dystrophy Distrofia miotonica di Steinert Steinert myotonic dystrophy Distrofia miotonica, tipo 1 Steinert myotonic dystrophy MD1 Steinert myotonic dystrophy Malattia di Steinert Subacute inflammatory demyelinating Polineuropatia infiammatoria polyneuropathy demielinizzante subacuta Poliradicoloneuropatia infiammatoria Subacute inflammatory demyelinating polyneuropathy demielinizzante subacuta Symptomatic form of muscular dystrophy Forma sintomatica femminile della distrofia muscolare di Duchenne e di Becker of Duchenne and Becker in female carriers Sindromi miasteniche congenite sinaptiche Synaptic congenital myasthenic syndromes Thomsen and Becker disease Malattia di Thomsen e Becker Tibial muscular dystrophy Distrofia muscolare della tibia Tibial muscular dystrophy Miopatia distale di Udd Treft-Sanborn-Carey syndrome Sindrome di Treft-Sanborn-Carey Treft-Sanborn-Carey syndrome Atrofia ottica - oftalmoplegia - ptosi sordità - miopatia Tubular aggregate myopathy Miopatia con aggregati tubulari Typical nemaline myopathy Miopatia nemalinica tipica Unknown leukodystrophy Leucodistrofia non nota Unspecified mitochondrial disorder Anomalia mitocondriale non specificata Walker-Warburg syndrome Sindrome di Walker-Warburg Walker-Warburg syndrome Idrocefalo - agiria -displasia retinica Walker-Warburg syndrome Sindrome HARD Walker-Warburg syndrome Lissencefalia, tipo 2 Wieacker-Wolff syndrome Sindrome di Wieacker-Wolff X-linked centronuclear myopathy Miopatia centronucleare legata all'X X-linked centronuclear myopathy Miopatia miotubulare X-linked centronuclear myopathy XLCNM X-linked centronuclear myopathy XLMTM X-linked cerebellar ataxia Atassia cerebellare legata all'X X-linked cerebellar ataxia type 1 Atassia cerebellare legata all'X, tipo 1 X-linked cerebellar ataxia type 1 SCAX1 X-linked cerebellar ataxia type 1 Atassia cerebellare legata all'X, tipo 5 Aggiornamento 04/12/2012 Medico referente Telefono e-mail (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Enrico Bertini (06) 6859-2744 [email protected] Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Enrico Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini Bertini (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 26/270 PatTag (english label) Lbl X-linked cerebellar ataxia type 1 X-linked cerebral adrenoleukodystrophy SCAX5 Adrenoleucodistrofia legata all'X, forma cerebrale Malattia di Charcot-Marie-Tooth legata all'X CMTX Rosenberg-Chutorian Malattia di Charcot-Marie-Tooth legata all'X, tipo 1 CMT1X Malattia di Charcot-Marie-Tooth legata all'X, tipo 2 CMT2X Malattia di Charcot-Marie-Tooth legata all'X, tipo 3 CMT3X Enrico Bertini X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 5 X-linked Charcot-Marie-Tooth disease type 5 X-linked distal arthrogryposis multiplex congenita X-linked distal arthrogryposis multiplex congenita X-linked distal arthrogryposis multiplex congenita X-linked distal arthrogryposis multiplex congenita X-linked distal spinal muscular atrophy Medico referente Telefono e-mail Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth legata all'X, tipo 4 CMT4X Enrico Bertini (06) 6859-2744 [email protected] Sindrome di Cowchock Enrico Bertini (06) 6859-2744 [email protected] Malattia di Charcot-Marie-Tooth legata all'X, tipo 5 CMT5X Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atrofia muscolare spinale con artrogriposi Enrico Bertini (06) 6859-2744 [email protected] Atrofia muscolare spinale infantile legata all'X Atrofia muscolare spinale legata all'X, tipo 2 SMAX2 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Atrofia spinale muscolare distale legata all'X HMN distale legata all'X Neuropatia motoria distale ereditaria legata all'X Distrofia muscolare di Emery-Dreifuss legata all'X EDMD1 Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Miopatia con autofagia eccessiva Enrico Bertini (06) 6859-2744 [email protected] Miopatia vacuolare Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 enricosilvio.bertin[email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] Enrico Bertini (06) 6859-2744 [email protected] ZASP-related myofibrillar myopathy Zebra body myopathy Miopatia legata all'X con atrofia muscolare posturale Sindrome neurodegenerativa legata all'X, tipo Bertini Sindrome neurodegenerativa legata all'X, tipo Hamel Neuropathy, motor and sensory, axonal, hereditary, X-linked recessive Miopatia miofibrillare correlata al gene ZASP Zaspopatia Miopatia con ''corpi zebrati'' Enrico Bertini Enrico Bertini (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] Aplasia of lacrimal and salivary glands Aplasia delle ghiandole lacrimali e salivari Sergio Bottero Aplasia of lacrimal and salivary glands Aplasia of lacrimal and salivary glands ALSG Assenza congenita dei punti lacrimali e delle ghiandole salivari Tumore epiteliale benigno delle ghiandole salivari Ugola bifida Atresia coanale bilaterale Cheilite ghiandolare Atresia coanale Atresia delle coane - sordità - cardiopatia Sergio Bottero Sergio Bottero (06) 6859-3478 (06) 6859-3478 [email protected] [email protected] Sergio Bottero (06) 6859-3478 [email protected] Sergio Sergio Sergio Sergio Sergio (06) (06) (06) (06) (06) 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 [email protected] [email protected] [email protected] [email protected] [email protected] Sindrome di Burn-McKeown Sergio Bottero (06) 6859-3478 [email protected] (06) (06) (06) (06) (06) (06) (06) 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-3478 [email protected] (06) 6859-3478 (06) 6859-3478 (06) 6859-3478 [email protected] [email protected] [email protected] (06) 6859-3478 (06) 6859-3478 [email protected] [email protected] X-linked distal spinal muscular atrophy X-linked distal spinal muscular atrophy X-linked Emery-Dreifuss muscular dystrophy X-linked Emery-Dreifuss muscular dystrophy X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy X-linked myopathy with postural muscle atrophy X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Hamel type X-linked recessive hereditary axonal motor and sensory neuropathy ZASP-related myofibrillar myopathy Benign epithelial tumor of the salivary glands Bifid uvula Bilateral choanal atresia Cheilitis glandularis Choanal atresia Choanal atresia - deafness - cardiac defects - dysmorphism Choanal atresia - deafness - cardiac defects - dysmorphism Congenital laryngeal palsy Congenital laryngeal web Congenital laryngomalacia Congenital subglottic stenosis Congenital tracheal stenosis Congenital tracheomalacia Congenital tracheomalacia Familial thyroglossal duct cyst First branchial cleft anomaly FLOTCH syndrome FLOTCH syndrome Isolated congenital anosmia Isolated congenital nasal pyriform aperture stenosis Aggiornamento 04/12/2012 Bottero Bottero Bottero Bottero Bottero Paralisi laringea congenita Sergio Bottero Membrana laringeale congenita Sergio Bottero Laringomalacia congenita Sergio Bottero Subglottic stenosis, congenital Sergio Bottero Stenosi congenita delle trachea Sergio Bottero Tracheomalacia congenita Sergio Bottero Collasso grave congenito delle vie Sergio Bottero respiratorie Sergio Bottero Cisti del condotto tireoglosso, forma familiare Branchial cleft anomaly, first Sergio Bottero Sindrome FLOTCH Sergio Bottero Leuconichia totale - cisti sebacee multiple - Sergio Bottero calcoli renali Anosmia congenita isolata Sergio Bottero Stenosi congenita e isolata degli orifizi Sergio Bottero piriformi nasali (06) 6859-3478 [email protected] 27/270 PatTag (english label) Lbl Isolated congenital nasal pyriform aperture stenosis Isolated congenital nasal pyriform aperture stenosis Juvenile nasopharyngeal angiofibroma Laryngeal abductor paralysis Laryngeal abductor paralysis Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual deficit Laryngeal abductor paralysis intellectual deficit Laryngeal cyst Laryngeal dyskinesia Ipoplasia isolata degli orifizi piriformi nasali Sergio Bottero (06) 6859-3478 [email protected] Stenosi isolata degli orifizi piriformi Sergio Bottero (06) 6859-3478 [email protected] Juvenile nasopharyngeal angiofibroma Paralisi dei muscoli della laringe Disgiunzione familiare delle corde vocali Sindrome di Gerhardt Paralisi della laringe - ritardo mentale Sergio Sergio Sergio Sergio Sergio (06) (06) (06) (06) (06) 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 [email protected] [email protected] [email protected] [email protected] [email protected] Sindrome di Plott Sergio Bottero (06) 6859-3478 [email protected] Laryngeal cyst, congenital Distonia della laringe (disfonia spasmodica) Laringocele Angioma laringotracheale Schisi laringo-tracheo-esofagea Anomalia della laringe Atresia laringea Sindrome di Lemierre Flebite settica della vena giugulare interna Sergio Bottero Sergio Bottero (06) 6859-3478 (06) 6859-3478 [email protected] [email protected] Sergio Sergio Sergio Sergio Sergio Sergio Sergio (06) (06) (06) (06) (06) (06) (06) 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Sepsi postanginale di Lemierre Sepsi postanginale secondaria a infezioni orofaringee LOGIC syndrome Sindrome LOGIC LOGIC syndrome Granulazioni laringee e oculari nei bambini Indiani LOGIC syndrome Sindrome laringo-onico-cutanea Midline cervical cleft Midline cervical cleft Nasal dermoid cyst Cisti dermoide nasale Nasal dorsum fistula/cyst Fistole/cisti del dorso del naso Nasal glial heterotopia Eterotopia gliale nasale Nasal glial heterotopia Glioma nasale Non-rare otorhinolaryngologic disease Non-rare otorhinolaryngologic disease Nose and cavum anomaly Anomalia del naso e del cavo Polyrrhinia Polirinia Posterior choanal atresia - lymphedema Atresia coanale posteriore - sindrome da syndrome linfedema Primary laryngeal lymphangioma Linfangioma primario della laringe Ptosis - vocal cord paralysis Ptosi - paralisi delle corde vocali Ptosis - vocal cord paralysis Sindrome di Tucker Rare otorhinolaryngologic disease Malattia d'interesse otorinolaringoiatrico rara Rare otorhinolaryngological malformation Malformazione rara d'interesse otorinolaringoiatrico Second branchial cleft anomaly Anomalia della seconda fessura brianchiale Sergio Bottero Sergio Bottero (06) 6859-3478 (06) 6859-3478 [email protected] [email protected] Sergio Bottero Sergio Bottero (06) 6859-3478 (06) 6859-3478 [email protected] [email protected] Sergio Sergio Sergio Sergio Sergio Sergio Sergio Sergio Sergio Sergio Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 6859-3478 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Sergio Sergio Sergio Sergio Bottero Bottero Bottero Bottero (06) (06) (06) (06) 6859-3478 6859-3478 6859-3478 6859-3478 [email protected] [email protected] [email protected] [email protected] Syndrome or malformation associated with head and neck malformations Laryngocele Laryngotracheal angioma Laryngo-tracheo-esophageal cleft Larynx anomaly Larynx atresia Lemierre syndrome Lemierre syndrome Lemierre syndrome Lemierre syndrome Medico referente Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Bottero Telefono e-mail Sergio Bottero (06) 6859-3478 [email protected] Sergio Bottero (06) 6859-3478 [email protected] Sindromi e malformazioni associate a malformazioni otorino-laringoiatriche Sergio Bottero (06) 6859-3478 [email protected] Syndrome or malformation associated with head and neck malformations Sindromi e malformazioni associate a malformazioni ORL Sergio Bottero (06) 6859-3478 [email protected] Abnormal eye movements Acanthamoeba keratitis Achromatopsia Achromatopsia Achromatopsia Acute annular outer retinopathy Acute bilateral depigmentation of the iris Movimenti anomali degli occhi Cheratite da acantamoeba Acromatopsia Acromatopsia completa Acromatopsia incompleta Acute annular outer retinopathy Depigmentazione bilaterale acuta dell'iride Paolo Capozzi Luca Buzzonetti Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Gino Catena Riccardo Maggi (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Acute endophthalmitis Acute endophthalmitis Michele Fortunato (06) 6859-3281 [email protected] Acute zonal occult outer retinopathy Åland Island eye disease Amaurosis - hypertrichosis Aniridia Acute zonal occult outer retinopathy Malattia oculare dell'isola di Åland Amaurosi - ipertricosi Aniridia (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] Anomaly of the secretory and excretory apparatus of the lacrimal system Anomalia dell'apparato secretorio e escretorio del sistema lacrimale Gino Catena Giancarlo Iarossi Giancarlo Iarossi Antonino Romanzo Andrea Zampini (06) 6859-3281 [email protected] Antonino Romanzo Andrea Zampini Andrea Zampini Luca Buzzonetti Luca Buzzonetti Luca Buzzonetti Paola Valente Paola Valente Luca Buzzonetti (06) 6859-3281 [email protected] (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Anophthalmia - microphthalmia Anoftalmia - microftalmia Antecubital pterygium syndrome Antecubital pterygium syndrome Anterior corneal dystrophy Anterior polar cataract Anterior polar cataract Anterior uveitis Atopic keratoconjunctivitis Atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 Autosomal dominant optic atrophy Autosomal dominant optic atrophy Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and cataract Sindrome da pterigio antecubitale Pterigio Distrofia corneale anteriore Cataratta polare anteriore Cataratta subcapsulare anteriore Anterior uveitis Cheratocongiuntivite atopica Malattia atipica di Norrie da monosomia Xp11.3 Malattia atipica di Norrie da del(X)(p11.3) Aggiornamento 04/12/2012 Malattia atipica di Norrie da microdelezione Xp11.3 Atrofia ottica autosomica dominante DOA Atrofia ottica e cataratta, autosomica dominante Atrofia ottica, autosomica dominante, tipo 3 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Luca Buzzonetti (06) 6859-3281 [email protected] Luca Buzzonetti (06) 6859-3281 [email protected] Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] 28/270 PatTag (english label) Lbl Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and late-onset deafness Autosomal dominant optic atrophy and late-onset deafness Autosomal dominant optic atrophy and late-onset deafness Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy, classic type Autosomal dominant optic atrophy, classic type Autosomal dominant optic atrophy, classic type Autosomal dominant optic atrophy, classic type Autosomal dominant optic atrophy, classic type Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy Autosomal recessive isolated optic atrophy Autosomal recessive optic atrophy Autosomal recessive optic atrophy, OPA6 type Autosomal recessive optic atrophy, OPA6 type Autosomal recessive optic atrophy, OPA6 type Autosomal recessive optic atrophy, OPA7 type Autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive progressive external ophthalmoplegia Autosomal recessive progressive external ophthalmoplegia Behr syndrome Benign concentric annular macular dystrophy Benign essential blepharospasm Benign exophthalmos syndrome Benign exophthalmos syndrome Best disease Best disease Best disease Bietti's crystalline dystrophy Bietti's crystalline dystrophy BIG-H3-related corneal dystrophy OPA3, autosomica dominante ADOA DOA Blue cone monochromatism Blue cone monochromatism Blue cone monochromatism Bothnia retinal dystrophy Bothnia retinal dystrophy Bradyopsia Bradyopsia Brittle cornea syndrome Brittle cornea syndrome Bulbar conjunctival dermoid or conjunctival dermolipoma Cancer-associated retinopathy Cancer-associated retinopathy Cancer-associated retinopathy Aggiornamento 04/12/2012 Medico referente Telefono e-mail Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica autosomica dominante sordità congenita Sindrome di Konisgsmark-Knox-Hussels Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] ADOA Giancarlo Iarossi (06) 6859-3281 [email protected] DOA Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica autosomica dominante e sordità a esordio tardivo ADOA Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] DOA Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica autosomica dominante con neuropatia periferica ADOA Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] DOA Giancarlo Iarossi (06) 6859-3281 [email protected] Sindrome dell'atrofia ottica plus, autosomica dominante Atrofia ottica - sordità - polineuropatia miopatia DOA+ Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] ADOA Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica autosomica dominante, tipo classico Atrofia ottica autosomica dominante, tipo Kjer Malattia di Kjer Luca Buzzonetti (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] ADOA Giancarlo Iarossi (06) 6859-3281 [email protected] DOA Giancarlo Iarossi (06) 6859-3281 g[email protected] Distacco regmatogeno della retina, autosomico dominante Vitreoretinocoroidopatia autosomica dominante ADVIRC Michele Fortunato (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Atrofia ottica isolata, autosomica recessiva Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica, autosomica recessiva Atrofia ottica, autosomica recessiva, tipo OPA6 Atrofia ottica congenita o precoce dell'infanzia Atrofia ottica isolata, autosomica recessiva Giancarlo Iarossi Giancarlo Iarossi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica, autosomica recessiva, tipo OPA7 Cataratta - alopecia - sclerodattilia Giancarlo Iarossi (06) 6859-3281 [email protected] Riccardo Maggi (06) 6859-3281 [email protected] Oftalmoplegia esterna progressiva autosomica recessiva arPEO Paolo Capozzi (06) 6859-3281 [email protected] Paolo Capozzi (06) 6859-3281 [email protected] Sindrome di Behr Distrofia maculare anulare concentrica benigna Blefarospasmo essenziale benigno Sindrome dell'esoftalmo benigno BES Malattia di Best Degenerazione maculare vitelliforme Distrofia vitelliforme Distrofia del cristallino, tipo Bietti BCD Distrofia corneale legata al gene BIG-H3 Giancarlo Iarossi Giancarlo Iarossi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Andrea Zampini Andrea Zampini Andrea Zampini Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Riccardo Maggi Riccardo Maggi Luca Buzzonetti (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Giancarlo Giancarlo Giancarlo Giancarlo Giancarlo Giancarlo Giancarlo (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Monocromatismo dei coni blu Acromatopsia atipica legata all'X Acromatopsia incompleta legata all'X Distrofia retinica, tipo Bothnia Distrofia, tipo Vasterbotten Bradiopsia Soppressione prolungata della risposta elettroretinica (PERRS) Sindrome della cornea fragile EDS 6B Dermolipoma e dermoide bulbare congiuntivale Retinopatia associata al tumore Retinopatia paraneoplastica Sindrome CAR Iarossi Iarossi Iarossi Iarossi Iarossi Iarossi Iarossi Luca Buzzonetti Luca Buzzonetti Andrea Zampini (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Paola Valente Paola Valente Paola Valente (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] 29/270 PatTag (english label) Lbl Cataract with Y-shaped suture opacities Cataratta con opacità lungo le suture a Y Cataract, Coppock-like Cataract, Hutterite type Cataract-glaucoma Cataract-microcornea syndrome Central areolar choroidal dystrophy Central areolar choroidal dystrophy Central areolar choroidal dystrophy Central areolar choroidal dystrophy Central cloudy corneal dystrophy of Francois Central discoid corneal dystrophy Cerulean cataract Chandler syndrome Channelopathy due to cyclic nucleotidegated ion channels Childhood-onset cortical cataract Cataratta Coppock-simile Luca Buzzonetti Cataratta, tipo Hutterita Luca Buzzonetti Cataratta - glaucoma Luca Buzzonetti Sindrome cataratta-microcornea Luca Buzzonetti Distrofia coroidale centrale areolare Gino Catena Atrofia areolare maculare Gino Catena CACD Gino Catena Sclerosi coroidale centrale areolare Gino Catena Distrofia corneale centrale torbida, tipo Luca Buzzonetti François Distrofia corneale discoide centrale Luca Buzzonetti Cataratta cerulea Luca Buzzonetti Sindrome di Chandler Andrea Zampini Canalopatia da canali ionici ciclici nucleotidi-Riccardo Maggi dipendenti Cataratta corticale a esordio nell'infanzia Luca Buzzonetti Chorioretinopathy, Birdshot type Choroideremia Chronic endophthalmitis Corioretinopatia, tipo Birdshot Coroideremia Chronic endophthalmitis Gino Catena (06) 6859-3281 Gino Catena (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] [email protected] Coats disease Coats disease Coats disease Cochleosaccular degeneration - cataract Malattia di Coats Aneurisma miliare di Leber Telangectasia retinica congenita Degenerazione cocleosacculare - cataratta Gino Catena Gino Catena Gino Catena Riccardo Maggi [email protected] [email protected] [email protected] [email protected] Cogan syndrome Cogan-Reese syndrome Coloboma of choroid and retina Sindrome di Cogan Sindrome di Cogan-Reese Coloboma corio-retinico Gino Catena (06) 6859-3281 Gino Catena (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] [email protected] Coloboma of eye lens Coloboma del cristallino Michele Fortunato (06) 6859-3281 [email protected] Coloboma of eyelid Coloboma delle palpebre Michele Fortunato (06) 6859-3281 [email protected] Coloboma of inferior eyelid Coloboma della palpebra inferiore Michele Fortunato (06) 6859-3281 [email protected] Coloboma of inferior eyelid Coloboma palpebrale inferiore Michele Fortunato (06) 6859-3281 [email protected] Coloboma of iris Coloboma dell'iride Michele Fortunato (06) 6859-3281 [email protected] Coloboma of macula Coloboma maculare Michele Fortunato (06) 6859-3281 [email protected] Michele Fortunato (06) 6859-3281 [email protected] Coloboma of macula - brachydactyly type Coloboma maculare - brachidattilia tipo B B Coloboma of macula - brachydactyly type Sindrome di Sorsby B Coloboma of optic papilla Coloboma della papilla ottica Medico referente Luca Buzzonetti Telefono e-mail (06) 6859-3281 [email protected] (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] (06) 6859-3281 [email protected] (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] Michele Fortunato (06) 6859-3281 [email protected] Coloboma of superior eyelid Coloboma della palpebra superiore Michele Fortunato (06) 6859-3281 [email protected] Coloboma of superior eyelid Coloboma palpebrale superiore Michele Fortunato (06) 6859-3281 [email protected] Colobomatous and areolar dystrophy Distrofia areolare e colobomatosa Michele Fortunato (06) 6859-3281 [email protected] Colobomatous microphthalmia Colobomatous microphthalmia Color-vision disease Complete cryptophthalmia Cone dystrophy with supernormal rod response Cone dystrophy with supernormal rod response Microftalmia colobomatosa Microftalmia con cisti colobomatosa Malattia della visione a colori Criptoftalmia completa Distrofia dei coni con risposta supernormale dei bastoncelli Distrofia dei coni con elettroretinogramma scotopico anomalo Riccardo Maggi Riccardo Maggi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Cone dystrophy with supernormal rod response Distrofia dei coni con risposta supernormale dei bastoncelli all'elettroretinogramma Cone rod dystrophy Distrofia dei coni e dei bastoncelli Confetti-like macular atrophy Atrofia maculare Confetti-simile Congenital alacrima Alacrimia congenita Congenital cataract microcornea with Congenital cataract microcornea with corneal opacity corneal opacity Congenital cataract, Volkmann type Cataratta congenita, tipo Volkmann Congenital cornea plana Cornea piana congenita Congenital ectropion Ectropion congenito Congenital ectropion uveae Ectropion uveae congenito Congenital ectropion uveae Iridogoniodisgenesia Congenital entropion Ectropion congenito Congenital eyelid retraction Retrazione palpebrale congenita Congenital fibrosis of extraocular muscles Fibrosi congenita dei muscoli extraoculari Giancarlo Iarossi Giancarlo Iarossi Andrea Zampini Luca Buzzonetti (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] Luca Buzzonetti Luca Buzzonetti Andrea Zampini Riccardo Maggi Riccardo Maggi Andrea Zampini Andrea Zampini Paolo Capozzi (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Congenital fibrosis of extraocular muscles FEOM Paolo Capozzi (06) 6859-3281 [email protected] Congenital fibrosis of extraocular muscles FEOM1 Paolo Capozzi (06) 6859-3281 [email protected] Congenital fibrosis of extraocular muscles FEOM2 Paolo Capozzi (06) 6859-3281 [email protected] Congenital glaucoma Congenital hereditary corneal dystrophy, Turpin stromal type Congenital hereditary endothelial dystrophy Congenital Horner syndrome Aggiornamento 04/12/2012 Glaucoma congenito Distrofia corneale stromale congenita ereditaria, tipo Turpin Distrofia endoteliale ereditaria congenita Riccardo Maggi Luca Buzzonetti (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Luca Buzzonetti (06) 6859-3281 [email protected] Sindrome congenita di Horner Michele Fortunato (06) 6859-3281 [email protected] 30/270 PatTag (english label) Lbl Congenital Horner syndrome Sindrome congenita di Claude BernardHorner Nistagmo idiopatico congenito Nistagmo motorio congenito Microcoria congenita Miosi congenita Afachia congenita primitiva Congenital Congenital Congenital Congenital Congenital idiopathic nystagmus idiopathic nystagmus microcoria microcoria primary aphakia Congenital Congenital Congenital Congenital Congenital Congenital ptosis stationary night blindness stationary night blindness symblepharon trochlear nerve palsy upper palpebral retraction Medico referente Telefono e-mail Michele Fortunato (06) 6859-3281 [email protected] Paolo Capozzi Paolo Capozzi Paolo Capozzi Paolo Capozzi Michele Fortunato (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Paolo Capozzi Giancarlo Iarossi Giancarlo Iarossi Andrea Zampini Paolo Capozzi Andrea Zampini (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Congenital vitreoretinal dysplasia Ptosi congenita Cecità notturna congenita stazionaria Emeralopia congenita essenziale Simblefaron congenito Paralisi congenita del nervo trocleare Retrazione congenita delle palpebre superiori Displasia vitreoretinica congenita Michele Fortunato (06) 6859-3281 [email protected] Conjunctival hemangioma or hemolymphangioma Conjunctival lymphangiectasia Emangioma congiuntivale e emolinfangioma Linfangiectasia congiuntivale Michele Fortunato (06) 6859-3281 [email protected] Michele Fortunato (06) 6859-3281 [email protected] Conjunctival telangiectasia Telangiectasia congiuntivale Michele Fortunato (06) 6859-3281 [email protected] Conjunctival tumor Conjunctival vascular anomaly Tumore congiuntivale Anomalia congiuntivale vascolare Paola Valente (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] Coralliform cataract Cataratta coralliforme Michele Fortunato (06) 6859-3281 [email protected] Corneal anesthesia - deafness intellectual deficit Corneal anesthesia - deafness intellectual deficit Corneal dystrophy Corneal dystrophy Corneal dystrophy - perceptive deafness Anestesia corneale - anomalie retiniche sordità Sindrome di Ramos-Arroyo-Clark Michele Fortunato (06) 6859-3281 [email protected] Michele Fortunato (06) 6859-3281 [email protected] Distrofia corneale Distrofie Distrofia corneale - sordità percettiva Luca Buzzonetti Luca Buzzonetti Luca Buzzonetti (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Corneal dystrophy - perceptive deafness CDPD Luca Buzzonetti (06) 6859-3281 [email protected] Corneal dystrophy - perceptive deafness Distrofia corneale con sordità progressiva Luca Buzzonetti (06) 6859-3281 [email protected] Corneal dystrophy, Avellino type Corneal dystrophy, Groenouw type Corneal dystrophy, Lisch type Corneal dystrophy, Reis-Buckler type Corneal dystrophy, Thiel-Behnke type Corneal flecked dystrophy, FrancoisNeetens type Corneal lesions with associated corneal stem cell deficiency due to ocular burns Distrofia corneale, tipo Avellino Distrofia corneale, tipo Groenouw Distrofia corneale, tipo Lisch Distrofia corneale, tipo Reis-Buckler Distrofia corneale, tipo Thiel-Behnke Distrofia corneale maculare, tipo FrançoisNeetens Lesioni corneali da deficit delle cellule staminali (limbali) corneali, secondarie a bruciature oculari Corneogoniodisgenesia Corneoiridogoniodisgenesia Criptoftalmia Edema maculare cistoide, autosomico dominante DCMD Distrofia maculare cistoide Edema maculare familiare Distrofia corneale cristallina profonda Cataratta associata a malattia dentocutanea Difetto dello sviluppo dell'occhio Malattia che predispone a degenerazione maculare età-correlata Malattia con possibile degenerazione neoplastica associata a segni oculari Luca Luca Luca Luca Luca Luca (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Luca Buzzonetti (06) 6859-3281 [email protected] Riccardo Maggi Riccardo Maggi Riccardo Maggi Gino Catena (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] Gino Catena Gino Catena Gino Catena Luca Buzzonetti Michele Fortunato (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Riccardo Maggi Gino Catena (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Antonino Romanzo (06) 6859-3281 [email protected] Sindrome di Duane DRS Sindrome della retrazione di Duane Malattia di Eales Cataratta non sindromica ad esordio precoce Atrofia ottica legata all'X a esordio precoce Paolo Capozzi Paolo Capozzi Paolo Capozzi Gino Catena Luca Buzzonetti (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Atrofia ottica a esordio precoce, tipo non Leber Atrofia ottica, tipo 2 OPA2 Ectopia del cristallino - distrofia corioretinca - miopia Sindrome di Noble-Bass-Sherman Giancarlo Iarossi (06) 6859-3281 [email protected] Corneogoniodysgenesis Corneoiridogoniodysgenesis Cryptophthalmia Cystoid macular dystrophy Cystoid macular dystrophy Cystoid macular dystrophy Cystoid macular dystrophy Deep lattice corneal dystrophy Dentocutaneous disease with cataract Developmental defect of the eye Disease predisposing to age-related macular degeneration Disease with potential neoplastic degeneration associated with ocular features Duane syndrome Duane syndrome Duane syndrome Eales disease Early-onset non-syndromic cataract Early-onset X-linked optic atrophy Early-onset X-linked optic atrophy Early-onset X-linked optic atrophy Early-onset X-linked optic atrophy Ectopia lentis - chorioretinal dystrophy myopia Ectopia lentis - chorioretinal dystrophy myopia Ectopia lentis syndrome Endophthalmitis Endotheliitis Epicanthal fold Essential iris atrophy Essential strabismus Euryblepharon Excretory apparatus of the lacrimal system anomaly Eyelid border anomaly Eyelid malformation Aggiornamento 04/12/2012 Buzzonetti Buzzonetti Buzzonetti Buzzonetti Buzzonetti Buzzonetti 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Giancarlo Iarossi (06) 6859-3281 Giancarlo Iarossi (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] [email protected] Michele Fortunato (06) 6859-3281 [email protected] Ectopia del cristallino, forma familiare Endoftalmite Luca Buzzonetti (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected]bg.net Endotelite Piega epicantica Atrofia essenziale dell'iride Strabismo essenziale Euriblefaron Anomalia dell'apparato escretorio del sistema lacrimale Anomalia del bordo palpebrale Malformazione delle palpebre Luca Buzzonetti Paolo Capozzi Riccardo Maggi Paolo Capozzi Andrea Zampini Andrea Zampini (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Andrea Zampini Andrea Zampini (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] 31/270 PatTag (english label) Lbl Eyelids malposition disorder Familial anetoderma Familial anetoderma Disturbo da malposizione delle palpebre Anetoderma familiare Anetoderma ereditario Familial anetoderma Atrofia maculare ereditaria Familial Familial Familial Familial Familial Familial Familial Drusen familiari DHRD Distrofia retinica a favo di Doyne Drusen dominanti Drusen radiali dominanti Malattia leventinese Vitroretinopatia essudativa familiare Andrea Zampini Gino Catena Antonino Romanzo Antonino Romanzo Gino Catena Gino Catena Gino Catena Gino Catena Gino Catena Gino Catena Michele Fortunato Familial exudative vitreoretinopathy drusen drusen drusen drusen drusen drusen exudative vitreoretinopathy Medico referente Telefono e-mail (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] (06) 6859-3281 [email protected] (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] FEVR Michele Fortunato (06) 6859-3281 [email protected] Familial exudative vitreoretinopathy Sindrome di Criswick-Schepens Michele Fortunato (06) 6859-3281 [email protected] Familial flecked retinopathy Familial flecked retinopathy Familial flecked retinopathy Familial keratoacanthoma Familial ocular anterior segment mesenchymal dysgenesis Familial retinal arterial macroaneurysm Retinite pigmentosa familiare Retinite pigmentosa ereditaria Retinite pigmentosa Cheratoacantoma familiare Disgenesia mesenchimale familiare del segmento anteriore dell'occhio Familial retinal arterial macroaneurysm Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Paolo Capozzi Riccardo Maggi (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Gino Catena (06) 6859-3281 Foveal hypoplasia - presenile cataract Ipoplasia della fovea - cataratta presenile Michele Fortunato (06) 6859-3281 [email protected] Foveal hypoplasia - presenile cataract Sindrome di O'Donnell-Pappas Michele Fortunato (06) 6859-3281 [email protected] 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] Fuchs endothelial corneal dystrophy Distrofia corneale endoteliale, tipo Fuchs Luca Buzzonetti (06) 6859-3281 [email protected] Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis Fundus albipunctatus Fundus pulverulentus Gelatinous drop-like corneal dystrophy Iridociclite eterocromica di Fuchs FHI Fondo albipuntato Fundus pulverulento Distrofia corneale gelatinosa a goccia Paola Valente Paola Valente Giancarlo Iarossi Giancarlo Iarossi Luca Buzzonetti (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Genetic developmental defect of the eye Genetic developmental defect of the eye Paolo Capozzi (06) 6859-3281 [email protected] Genetic keratinisation disorder associated with ocular features Disturbo genetico della cheratinizzazione associato a segni oculari Paolo Capozzi (06) 6859-3281 [email protected] Genetic lens and zonula anomaly Genetic macular dystrophy Genetic optic neuropathy Genetic lens and zonula anomaly Distrofia maculare genetica Genetic optic neuropathy Paolo Capozzi (06) 6859-3281 Gino Catena (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] [email protected] Genetic vitreous-retinal disease Malattia vitreo-retinica Michele Fortunato (06) 6859-3281 [email protected] Glaucoma associated with neural crest cell migration anomaly Goldmann-Favre syndrome Goldmann-Favre syndrome Goldmann-Favre syndrome Helicoid peripapillary chorioretinal degeneration Helicoid peripapillary chorioretinal degeneration Helicoid peripapillary chorioretinal degeneration Hereditary glaucoma Hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemia with congenital cataracts Hereditary keratitis Hereditary vascular retinopathy Hereditary vascular retinopathy Hereditary vascular retinopathy Anomalia di migrazione delle cellule della cresta neurale con glaucoma Sindrome di Goldmann-Favre Retinoschisi con emeralopia precoce Sindrome da aumento dei coni corti Degenerazione corioretinica peripapillare elicoidale Atrofia aerata Gino Catena (06) 6859-3281 [email protected] Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Gino Catena (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] Gino Catena (06) 6859-3281 [email protected] Atrofia corioretinica di Sveinsson (SCRA) Gino Catena (06) 6859-3281 [email protected] Glaucoma ereditario Cataratta - iperferritinemia Riccardo Maggi Paolo Capozzi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Sindrome di Bonneau-Beaumont Paolo Capozzi (06) 6859-3281 [email protected] Cheratite ereditaria Retinopatia vascolare ereditaria HVR Retinopatia vascolare ereditaria fenomeno di Raynaud - emicrania Distrofia corneale a ''gocce di miele'' Sindrome di Hoon-Hal Paralisi orizzontale dello sguardo con scoliosi progressiva HGPPS Luca Gino Gino Gino (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Honey-droplet corneal dystrophy Hoon-Hall syndrome Horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis Hypotrichosis with juvenile macular degeneration Idiopathic anterior uveitis Idiopathic panuveitis Idiopathic posterior uveitis Idiopathic uveal effusion syndrome Infectious anterior uveitis Infectious epithelial keratitis Infectious panuveitis Infectious posterior uveitis Intermediate uveitis Inverse Marcus-Gunn phenomenon Iridocorneal endothelial syndrome Iridocorneal endothelial syndrome Iridogoniodysgenesis IRVAN syndrome Aggiornamento 04/12/2012 Oftalmoplegia esterna progressiva e scoliosi Degenerazione maculare giovanile ipotricosi Idiopathic anterior uveitis Idiopathic panuveitis Idiopathic posterior uveitis Sindrome idiopatica da effusione uveale Infectious anterior uveitis Cheratite epiteliale infettiva Infectious panuveitis Infectious posterior uveitis Intermediate uveitis Fenomeno inverso di Marcus-Gunn Sindrome endoteliale iridocorneale Sindrome ICE Iridogoniodisgenesia Sindrome IRVAN Buzzonetti Catena Catena Catena Luca Buzzonetti Paolo Capozzi Paolo Capozzi 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Paolo Capozzi (06) 6859-3281 [email protected] Paolo Capozzi (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Paola Valente Paola Valente Paola Valente Paola Valente Paola Valente Paola Valente Paola Valente Paola Valente Paola Valente Paolo Capozzi Luca Buzzonetti Luca Buzzonetti Riccardo Maggi Michele Fortunato (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] p[email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 32/270 PatTag (english label) Lbl IRVAN syndrome Sindrome retina-aneurismi-neuroretinite idiopatica Aniridia isolata Isolated aniridia Isolated ankyloblepharon filiforme adnatum Isolated anophthalmia - microphthalmia Anchiloblefaron filiforme congenito isolato Isolated Isolated Isolated Isolated Isolated Isolated Alacrimia congenita Ectropion congenito isolato Megalocornea isolata congenita Megaloftalmia anteriore congenita Sclerocornea isolata congenita Criptoftalmia isolata congenital alacrima congenital ectropion congenital megalocornea congenital megalocornea congenital sclerocornea cryptophthalmia Isolated keratoconus Jalili syndrome Jalili syndrome Juvenile glaucoma Kandori's fleck retina Keratoconus Kinetic eyelid anomaly Knobloch syndrome Knobloch syndrome Knobloch syndrome Anoftalmia - microftalmia isolata Cheratocono isolato Sindrome di Jalili Distrofia dei coni e dei bastoncelli amelogenesi imperfetta Glaucoma giovanile Retina a chiazze, tipo Kandori Cheratocono Anomalia cinetica delle palpebre Sindrome di Knobloch Distacco della retina - encefalocele occipitale Sindrome di Knobloch-Layer Medico referente Telefono Michele Fortunato (06) 6859-3281 [email protected] Antonino Romanzo Antonino Romanzo Antonino Romanzo Andrea Zampini Andrea Zampini Luca Buzzonetti Luca Buzzonetti Luca Buzzonetti Antonino Romanzo Luca Buzzonetti Giancarlo Iarossi Giancarlo Iarossi (06) 6859-3281 [email protected] (06) 6859-3281 [email protected] (06) 6859-3281 [email protected] (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Riccardo Maggi Gino Catena Luca Buzzonetti Andrea Zampini Michele Fortunato (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Michele Fortunato (06) 6859-3281 [email protected] Michele Fortunato (06) 6859-3281 [email protected] [email protected] 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 e-mail Late-onset retinal degeneration Degenerazione retinica a esordio tardivo Gino Catena (06) 6859-3281 Late-onset retinal degeneration Degenerazione retinica a esordio tardivo, autosomica dominante LORD Retinopatia pigmentosa Distrofia corneale cristallina, tipo 1 Distrofia corneale cristallina, tipo 3a Amaurosi congenita di Leber Neuropatia ottica ereditaria di Leber Atrofia ottica, tipo Leber Malattia di Leber ''plus'' Anomalia del cristallino e della zonula Anomalia della posizione del cristallino Anomalia della forma del cristallino Anomalia delle dimensioni del cristallino Amiloidosi maculare Gino Catena (06) 6859-3281 [email protected] Giancarlo Iarossi Giancarlo Iarossi Luca Buzzonetti Luca Buzzonetti Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Paolo Capozzi Paolo Capozzi Paolo Capozzi Paolo Capozzi Michele Fortunato (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Distrofia corneale, tipo maculare Anomalie oculari dei maggiori processi d'induzione Distrofia corneale epiteliale giovanile di Meesmann juvenile epithelial corneal dystrophy Meesmann Megalocornea - sferofachia - glaucoma Megalocornea - spherophakia secondary glaucoma secondario Microblepharon - ablephara Microblefaron - ablefaria Microcornea - posterior megalolenticonus Sindrome MPCC - persistent fetal vasculature - coloboma Luca Buzzonetti Riccardo Maggi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Luca Buzzonetti (06) 6859-3281 [email protected] Luca Buzzonetti (06) 6859-3281 [email protected] Andrea Zampini Luca Buzzonetti (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Microcystic corneal dystrophy Microphthalmia - cataract Distrofia corneale microcistica Microftalmia - cataratta Luca Buzzonetti (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] Microphthalmia - cataract Cataratta congenita con microftalmia Michele Fortunato (06) 6859-3281 [email protected] Microphthalmia, Lenz type Microftalmia, tipo Lenz Michele Fortunato (06) 6859-3281 [email protected] Microphthalmia, Lenz type MCOPS1 Michele Fortunato (06) 6859-3281 [email protected] Microphthalmia, Lenz type Microftalmia di Lenz Michele Fortunato (06) 6859-3281 [email protected] Late-onset retinal degeneration Late-onset retinal degeneration Lattice corneal dystrophy type 1 Lattice corneal dystrophy type 3a Leber congenital amaurosis Leber hereditary optic neuropathy Leber hereditary optic neuropathy Leber 'plus' disease Lens and zonula anomaly Lens position anomaly Lens shape anomaly Lens size anomaly Macular amyloidosis Macular corneal dystrophy Major induction processes eye anomaly 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Microphthalmia, Lenz type Microftalmia sindromica, tipo 1 Michele Fortunato (06) 6859-3281 [email protected] MIDAS syndrome MIDAS syndrome MIDAS syndrome Sindrome MIDAS MCOPS7 Microftalmia - aplasia dermica sclerocornea Microftalmia sindromica, tipo 7 Microftalmia, aplasia dermica e sclerocornea Sindrome MLS Sindrome della microftalmia con difetti cutanei lineari Sindrome ''Morning glory'' Sindrome MRCS Microcornea, distrofia dei coni e dei bastoncelli, cataratta e stafiloma posteriore Distrofia multifocale simulante il fundus flavimaculato Cheratoacantoma multiplo, tipo FergusonSmith ESS1 Paolo Capozzi Paolo Capozzi Paolo Capozzi (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Paolo Capozzi Paolo Capozzi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Paolo Capozzi Paolo Capozzi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Gino Catena Giancarlo Iarossi Giancarlo Iarossi (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Antonino Romanzo Antonino Romanzo Gino Catena Paolo Capozzi Andrea Zampini (06) 6859-3281 [email protected] (06) 6859-3281 [email protected] (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] MIDAS syndrome MIDAS syndrome MIDAS syndrome MIDAS syndrome Morning glory syndrome MRCS syndrome MRCS syndrome Multifocal pattern dystrophy simulating fundus flavimaculatus Multiple keratoacanthoma, FergusonSmith type Multiple keratoacanthoma, FergusonSmith type Myopic macular degeneration Nanophthalmia Nasolacrimal duct cyst Aggiornamento 04/12/2012 Myopic macular degeneration Nanoftalmia Nasolacrimal duct cyst 33/270 PatTag (english label) Lbl Neovascular glaucoma Neurogenic palpebral tumor Glaucoma neovascolare Tumore neurogenico delle palpebre Neurotrophic keratopathy Non-infectious uveitis affecting the posterior segment of the eye Non-rare eye disease Non-syndromic congenital cataract Nonsyndromic developmental defect of the eye Norrie disease Norrie disease Norrie disease Norrie disease North Carolina macular dystrophy Cheratopatia neurotrofica Uveite non infettiva del segmento posteriore dell'occhio Non-rare eye disease Cataratta congenita non sindromica Difetto non sindromico dello sviluppo oculare Malattia di Norrie Atrofia bulbare ereditaria Cecità di Episkopi Malattia di Norrie-Warburg Distrofia maculare della Carolina del Nord North Carolina macular dystrophy North Carolina macular dystrophy North Carolina macular dystrophy Oguchi disease Oligocone trichromacy Oligocone trichromacy Optic atrophy Optic neuropathy Panuveitis Paraneoplastic uveitis Partial congenital cataract Partial cryptophthalmia CAPED Distrofia CAPE Distrofia centrale areolare dell'epitelio pigmentato Distrofia centrale dell'epitelio retinico pigmentato Distrofia maculare retinica della Carolina del Nord, tipo 1 Distrofia progressiva della fovea MCDR1 NCMD Cataratta nucleare Paralisi oculomotoria nucleare Distrofia maculare occulta OMD Ocular albinism Coloboma oculare Aprassia oculomotoria, tipo Cogan Pemfigoide oculare Displasia oculocerebrale Microftalmia - aplasia del nervo ottico Sindrome di Behrens-Baumann-Vogel Paralisi oculomotoria Malattia di Oguchi Cecità notturna permanente congenita, tipo Oguchi Sindrome di Oguchi Tricromazia oligoconica Sindrome oligoconica Atrofia ottica Neuropatia ottica Panuveitis Paraneoplastic uveitis Cataratta parziale congenita Criptoftalmia parziale Patterned dystrophy of the retinal pigment epithelium Persistent hyperplastic primary vitreous Distrofia dell'epitelio pigmentato della retina PFVS Michele Fortunato (06) 6859-3281 [email protected] Persistent hyperplastic primary vitreous PHPV Michele Fortunato (06) 6859-3281 [email protected] Persistent hyperplastic primary vitreous Vitreo primitivo iperplastico persistente Michele Fortunato (06) 6859-3281 [email protected] Persistent placoid maculopathy Peters anomaly Peters anomaly Peters anomaly - cataract Phako-anaphylactic uveitis Maculopatia placoide persistente Anomalia di Peters Glaucoma congenito di Peters Anomalia di Peters - cataratta Uveite facoanafilattica Gino Catena Luca Buzzonetti Riccardo Maggi Luca Buzzonetti Michele Fortunato (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Pigmentation disorder with eye involvement Pigmentation disorder with eye involvement, excluding albinism Pigment-dispersion syndrome Pigmented conjunctival lesion Disturbo della pigmentazione associato a malattia oculare Malattia genetica della pigmentazione oculare non classificata Sindrome da dispersione del pigmento Lesione congiuntivale pigmentata Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Pigmented palpebral tumor Tumore pigmentato delle palpebre (06) 6859-3281 [email protected] Pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy Posterior amorphous corneal dystrophy Atrofia retinocoroidea paravenosa pigmentata PPRCA Giancarlo Iarossi Antonino Romanzo Antonino Romanzo Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Distrofia corneale posteriore amorfa Luca Buzzonetti (06) 6859-3281 Posterior corneal dystrophy Posterior cortical atrophy Distrofia corneale posteriore Atrofia corticale posteriore Luca Buzzonetti (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] Posterior cortical atrophy PCA Michele Fortunato (06) 6859-3281 [email protected] Posterior cortical atrophy Sindrome di Benson Michele Fortunato (06) 6859-3281 [email protected] Posterior polar cataract Cataratta polare posteriore Michele Fortunato (06) 6859-3281 [email protected] Posterior polar cataract Cataratta subcapsulare posteriore Michele Fortunato (06) 6859-3281 [email protected] Posterior polymorphous corneal dystrophy Posterior uveitis Distrofia corneale posteriore polimorfa Luca Buzzonetti (06) 6859-3281 [email protected] Posterior uveitis Gino Catena (06) 6859-3281 [email protected] North Carolina macular dystrophy North Carolina macular dystrophy North Carolina macular dystrophy North Carolina macular dystrophy North Carolina macular dystrophy Nuclear cataract Nuclear oculomotor paralysis Occult macular dystrophy Occult macular dystrophy Ocular albinism Ocular coloboma Ocular motor apraxia, Cogan type Ocular pemphigoid Oculocerebral dysplasia Oculocerebral dysplasia Oculocerebral dysplasia Oculomotor palsy Oguchi disease Oguchi disease Aggiornamento 04/12/2012 Medico referente Riccardo Maggi Antonino Romanzo Luca Buzzonetti Paola Valente Telefono e-mail (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Paolo Capozzi (06) 6859-3281 Luca Buzzonetti (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] [email protected] Giancarlo Giancarlo Giancarlo Giancarlo Giancarlo 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Luca Buzzonetti Paolo Capozzi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Paolo Capozzi Andrea Zampini Paolo Capozzi Paolo Capozzi Sergio Petroni Paolo Capozzi Giancarlo Iarossi Giancarlo Iarossi (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Gino Catena Gino Catena Luca Buzzonetti Antonino Romanzo Giancarlo Iarossi (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Iarossi Iarossi Iarossi Iarossi Iarossi (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] 34/270 PatTag (english label) Lbl Primary anetoderma Primary glaucoma Progressive bifocal chorioretinal atrophy Atrofia maculare primitiva Glaucoma primario Atrofia corioretinica bifocale progressiva Progressive Progressive Progressive Progressive cone dystrophy cone dystrophy external ophthalmoplegia external ophthalmoplegia Pterygium of the conjunctiva, familial form Ptosis Ptosis - strabismus - ectopic pupils Ptosis - strabismus - ectopic pupils Ptosis - upper ocular movement limitation - absence of lacrimal punctum Medico referente Telefono e-mail Giancarlo Iarossi Riccardo Maggi Gino Catena (06) 6859-3281 (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] [email protected] Distrofia progressiva dei coni Distrofie dei coni Oftalmoplegia esterna progressiva Oftalmoplegia esterna progressiva cronica (CPEO) Pterigio della congiuntiva, forma familiare Giancarlo Iarossi Giancarlo Iarossi Paolo Capozzi Paolo Capozzi (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] Andrea Zampini (06) 6859-3281 [email protected] Ptosi Ptosi - strabismo - pupille ectopiche Sindrome di McPherson-Hall Ptosi - limitazione dei movimenti oculari verso l'alto - assenza dei punti lacrimali Andrea Andrea Andrea Andrea (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] andrea.zam[email protected] [email protected] [email protected] [email protected] Zampini Zampini Zampini Zampini 6859-3281 6859-3281 6859-3281 6859-3281 Pulverulent cataract Radiculomegaly of canine teethcongenital cataract Radiculomegaly of canine teethcongenital cataract Rare acquired eye disease Rare cataract Rare conjunctival disease Rare eye disease Rare eye disease due to a differentiation anomaly Rare genetic eye disease Cataratta pulverulenta Radiculomegalia dei canini - cataratta congenita Sindrome di Marashi-Gorlin Luca Buzzonetti Luca Buzzonetti (06) 6859-3281 (06) 6859-3281 Luca Buzzonetti (06) 6859-3281 [email protected] Malattia oculare acquisita rara Cataratta rara Malattia congiuntivale rara Malattia oculare rara Malattia oculare rara da anomalia di differenziazione Malattia oculare genetica Riccardo Maggi Luca Buzzonetti Andrea Zampini Riccardo Maggi Riccardo Maggi (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-3281 [email protected] Rare genetic glaucoma Rare genetic palpebral, lacrimal system and conjunctival disease Rare genetic refraction anomaly Rare glaucoma Rare hyperopia and astigmatism Rare inflammatory eye disease Rare isolated myopia Rare lacrimal system disease Rare non-syndromic cataract Rare palpebral disease Rare palpebral, lacrimal system and conjunctival diseases Rare pediatric inflammatory eye disease Rare genetic glaucoma Rare genetic palpebral, lacrymal system and conjunctival disease Rare genetic refraction anomaly Glaucoma raro Iperopia e astigmatismo rari Rare inflammatory eye disease Miopia isolata rara Malattia rara del sistema lacrimale Cataratta non sindromica rara Malattia rara delle palpebre Malattie rare del sistema lacrimale, delle palpebre e della congiuntiva Malattia oculare infiammatoria rara Antonino Romanzo Riccardo Maggi Andrea Zampini (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Luca Buzzonetti Riccardo Maggi Luca Buzzonetti Riccardo Maggi Luca Buzzonetti Andrea Zampini Paolo Capozzi Andrea Zampini Andrea Zampini (06) (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Rare refraction anomaly Rare strabismus and restriction syndrome Rejection after corneal transplantation Reticular dystrophy of the retinal pigment epithelium Retinal arteries tortuosity Retinal arteries tortuosity 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] Anomalia rara della rifrazione Strabismo con una sindrome restrittiva rara Rigetto del trapianto corneale Distrofia reticolare dell'epitelio pigmentato retinico Tortuosità delle arteriole retiniche Emorragia retinica con tortuosità vascolare Luca Buzzonetti Paolo Capozzi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Luca Buzzonetti Giancarlo Iarossi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Gino Catena Gino Catena (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Antonino Romanzo Gino Catena Gino Catena (06) 6859-3281 [email protected] (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Gino Catena (06) 6859-3281 [email protected] Riccardo Maggi (06) 6859-3281 [email protected] Retinal cavernous hemangioma Emangioma retinico cavernoso Retinal ciliopathy Retinal ciliopathy due to mutation in Bardet-Biedl gene Retinal ciliopathy due to mutation in nephronophthisis gene Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Retinal ciliopathy due to mutation in the RPGR gene Retinal ciliopathy due to mutation in the RPGRIP gene Retinal ciliopathy due to mutation in Usher gene Retinal degeneration - nanophthalmos glaucoma Retinal degeneration - nanophthalmos glaucoma Retinal dystrophy Retinal vasculopathy and cerebral leukodystrophy Retinal vasculopathy and cerebral leukodystrophy Retinitis pigmentosa Retinitis punctata albescens Retinopathy of prematurity Retinopathy, Burgess-Black type Retinopathy, Burgess-Black type Ciliopatia retinica Ciliopatia retinica da mutazione del gene di Bardet-Biedl Ciliopatia retinica da mutazione del gene della nefronoftisi Ciliopatia retinica da mutazione del gene della retinite pigmentosa-1 Ciliopatia retinica da mutazione del gene RP1 Ciliopatia retinica dovuta a mutazione del gene RP1 Ciliopatia retinica da mutazione del gene di RPGR Ciliopatia retinica da mutazione del gene di RPGRIP Ciliopatia retinica da mutazione del gene di Usher Degenerazione retinica - microftalmia glaucoma Sindrome di Mackay-Shek-Carr Rieger's anomaly Rieger's anomaly Rieger's anomaly Ring dermoid of cornea Ring dermoid of cornea Schnyder's crystalline corneal dystrophy Aggiornamento 04/12/2012 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Sergio Petroni (06) 6859-3281 [email protected] Distrofia retinica Vasculopatia retinica e leucodistrofia cerebrale RVCL Gino Catena Gino Catena (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Gino Catena (06) 6859-3281 [email protected] Retinite pigmentosa Retinite puntata albescens Retinopatia della prematurità Retinopatia, tipo Burgess-Black Bestrofinopatia, autosomatica recessiva Giancarlo Giancarlo Giancarlo Giancarlo Giancarlo (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Anomalia di Rieger-Axenfeld Anomalia di Rieger Iridogoniodisgenesia Dermoide anulare della cornea Sindrome del dermoide anulare Distrofia corneale cristallina di Schnyder Riccardo Maggi Riccardo Maggi Riccardo Maggi Luca Buzzonetti Paolo Capozzi Luca Buzzonetti (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Iarossi Iarossi Iarossi Iarossi Iarossi 35/270 PatTag (english label) Lbl S-cone monochromatism Secondary dysgenetic glaucoma Secondary ectropion Secondary entropion Secondary glaucoma due to a proliferation and differentiation anomaly Monocromatismo da coni S Glaucoma secondario disgenetico Ectropion secondario Ectropion secondario Glaucoma secondario da anomalia di differenziazione e proliferazione Secretory apparatus of the lacrimal system anomaly Serpiginous choroiditis Serpiginous choroiditis Anomalia dell'apparato secretorio del sistema lacrimale Coroidite serpiginosa Coroidopatia geografica elicoidale peripapillare Anomalia della palpebra superiore assenza delle ciglia Sindrome di Lopes-Gorlin Short tarsus - absence of lower eyelashes Short tarsus - absence of lower eyelashes Snowflake vitreoretinal degeneration Sorsby's fundus dystrophy Spasmus nutans Stargardt disease Stargardt disease Stromal corneal dystrophy Stromal keratitis Subcorneal pustular dermatosis Degenerazione vitreoretinica a ''fiocchi di neve'' Distrofia del fondo oculare di Sorsby Spasmus nutans Malattia di Stargardt Fundus flavimaculatus Distrofia corneale stromale Cheratite stromale Dermatosi pustolosa subcornea Subcorneal pustular dermatosis Malattia di Sneddon-Wilkinson Subcorneal pustular dermatosis Pustolosi subcornea Medico referente Telefono e-mail Giancarlo Iarossi Riccardo Maggi Andrea Zampini Andrea Zampini Riccardo Maggi (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Andrea Zampini (06) 6859-3281 [email protected] Gino Catena Gino Catena (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Andrea Zampini (06) 6859-3281 [email protected] Andrea Zampini (06) 6859-3281 [email protected] 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-3281 [email protected] (06) 6859-3281 [email protected] Subepithelial mucinous corneal dystrophy Distrofia corneale subepiteliale mucinosa Giancarlo Iarossi Paolo Capozzi Giancarlo Iarossi Giancarlo Iarossi Luca Buzzonetti Luca Buzzonetti Antonino Romanzo Antonino Romanzo Antonino Romanzo Luca Buzzonetti Superior limbic keratoconjunctivitis Superior limbic keratoconjunctivitis (06) 6859-3281 [email protected] Cheratocongiuntivite limbica superiore Cheratocongiuntivite limbica superiore di Theodore SLK Sindrome di Theodore Oftalmia simpatica Uveite simpatica Sindrome con strabismo sintomatico Paolo Capozzi Paolo Capozzi (06) 6859-3281 (06) 6859-3281 [email protected] [email protected] Paolo Paolo Paolo Paolo Paolo (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Aniridia sindromica Anchiloblefaron sindromico Cataratta sindromica Riccardo Maggi (06) 6859-3281 Andrea Zampini (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] corneal dystrophy developmental defect of the Distrofia corneale sindromica Difetto sindromico dello sviluppo oculare Luca Buzzonetti (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] glaucoma hyperopia keratoconus microphthalmia microphthalmia type 5 Riccardo Maggi Riccardo Maggi Luca Buzzonetti Sergio Petroni Sergio Petroni (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] Syndromic myopia Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic orbital border hypoplasia Syndromic palpebral coloboma Syndromic retinitis pigmentosa Systemic disease with cataract Glaucoma sindromico Iperopia sindromica Cheratocono sindromico Microftalmia sindromica Microftalmia sindromica da mutazione di OTX2 Miopia sindromica Syndromic oculocutaneous albinism Ipoplasia sindromica del nervo ottico Ipoplasia sindromica del bordo orbitario Sindrome di Urrets-Zavalia Coloboma palpebrale sindromico Retinite pigmentosa sindromica Cataratta associata a malattia sistemica Luca Buzzonetti Giancarlo Iarossi Giancarlo Iarossi Luca Buzzonetti Andrea Zampini Andrea Zampini Giancarlo Iarossi Michele Fortunato (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Tolosa-Hunt syndrome Tolosa-Hunt syndrome Total congenital cataract Triopia Tritanopia Tritanopia Tritanopia Tritanopia Tritanopia Unclassified familial retinal dystrophy Sindrome di Tolosa-Hunt Oftalmoplegia dolorosa Cataratta totale congenita Triopia Tritanopia Cecità ai colori - tritan Cecità al blu Tritanopia congenita Cecità ai colori Distrofia retinica ereditaria non classificata Paolo Capozzi Paolo Capozzi Luca Buzzonetti Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Unclassified primitive or secondary maculopathy Usher syndrome Usher syndrome Usher syndrome Usher syndrome type 1 Usher syndrome type 1 Usher syndrome type 2 Usher syndrome type 2 Usher syndrome type 3 Usher syndrome type 3 Uveal melanoma Uveal melanoma Uveal melanoma Uveitis Vernal keratoconjunctivitis Vitreoretinal degeneration Maculopatia primaria o secondaria non classificata Sindrome di Usher Retinite pigmentosa - sordità USH Sindrome di Usher, tipo 1 USH1 Sindrome di Usher, tipo 2 USH2 Sindrome di Usher, tipo 3 USH3 Melanoma dell'uvea Melanoma dell'iride Melanoma della coroide Uveite Cheratocongiuntivite primaverile Degenerazione vitreoretinica Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Paola Valente Paola Valente Paola Valente Paola Valente Paola Valente Michele Fortunato (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Vitreoretinopathy Vitreoretinopatia Michele Fortunato (06) 6859-3281 [email protected] Vogt-Koyanagi-Harada disease Malattia di Vogt-Koyanagi-Harada Paolo Capozzi [email protected] Superior limbic keratoconjunctivitis Superior limbic keratoconjunctivitis Sympathetic ophthalmia Sympathetic ophthalmia Syndrome with a symptomatic strabismus Syndromic aniridia Syndromic ankyloblepharon Syndromic cataract Syndromic Syndromic eye Syndromic Syndromic Syndromic Syndromic Syndromic Aggiornamento 04/12/2012 Capozzi Capozzi Capozzi Capozzi Capozzi 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 (06) 6859-3281 36/270 PatTag (english label) Lbl Vogt-Koyanagi-Harada disease Wagner disease Wagner disease Wagner disease Wagner disease Wagner disease Wagner disease Wagner disease Sindrome uveomeningitica Malattia di Wagner Degenerazione vitreoretinica di Wagner Distrofia ialoidoretinica di Wagner Sindrome di Wagner Vitreoretinopatia legata a VCAN ERVR Vitreoretinopatia erosiva Telefono e-mail Paolo Capozzi Paolo Capozzi Gino Catena Gino Catena Gino Catena Gino Catena Gino Catena Michele Fortunato (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] cone dysfunction syndrome with Sindrome da disfunzione dei coni con miopia, legata all'X cone dysfunction syndrome with Malattia oculare, tipo Bornholm Giancarlo Iarossi (06) 6859-3281 [email protected] Giancarlo Iarossi (06) 6859-3281 [email protected] corneal dermoid corneal dermoid recessive ocular albinism recessive ocular albinism recessive ocular albinism recessive ocular albinism recessive optic atrophy retinal dysplasia retinoschisis Dermoide corneale legato all'X Sindrome di Guizar-Vasquez-Luengas Albinismo oculare recessivo legato all'X Albinismo oculare, tipo 1 Albinismo oculare, tipo Nettleship-Falls OA-1 Atrofia ottica recessiva legata all'X Displasia retinica legata all'X Retinoschisi legata all'X Luca Buzzonetti Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Giancarlo Iarossi Michele Fortunato (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] X-linked retinoschisis Retinoschisi giovanile Michele Fortunato (06) 6859-3281 [email protected] Zonular cataract Zonular cataract Cataratta zonulare Cataratta lamellare Paolo Capozzi (06) 6859-3281 Michele Fortunato (06) 6859-3281 [email protected] [email protected] Atresia dell'uretra Cancro della vescica Estrofia vescicale Estrofia vescicale classica Estrofia della cloaca Complesso OEIS Onfalocele - estrofia della cloaca - ano imperforato - anomalie spinali Megauretere primitivo congenito, forma Congenital primary megaureter, nonrefluxing and unobstructed form non ostruttiva e senza reflusso Megauretere primitivo congenito, forma Congenital primary megaureter, obstructed form ostruttiva Congenital primary megaureter, refluxing Megauretere primitivo congenito con form reflusso Distal obstructive uropathy - polydactyly Uropatia ostruttiva distale - polidattilia Paolo Paolo Paolo Paolo Paolo Paolo Paolo Duplication of urethra Exstrophy-epispadias complex Exstrophy-epispadias complex Exstrophy-epispadias complex X-linked myopia X-linked myopia X-linked X-linked X-linked X-linked X-linked X-linked X-linked X-linked X-linked Atresia of urethra Bladder Cancer Bladder exstrophy Bladder exstrophy Cloacal exstrophy Cloacal exstrophy Cloacal exstrophy Exstrophy-epispadias complex Familial vesicoureteral reflux Fowler syndrome Genetic renal or urinary tract malformation Genetic urogenital tract malformation Hinman syndrome Hinman syndrome Interstitial cystitis Malakoplakia Megacystis-megaureter syndrome Megacystis-megaureter syndrome Non-rare urogenital disease Nonsyndromic renal or urinary tract malformation Nonsyndromic urogenital tract malformation Nonsyndromic urogenital tract malformation of female Nonsyndromic urogenital tract malformation of male Nonsyndromic urogenital tract malformation of male and female Non-syndromic uterovaginal malformation Ochoa syndrome Ochoa syndrome Ochoa syndrome Ochoa syndrome Ochoa syndrome Polycystic ovaries - urethral sphincter dysfunction Polycystic ovaries - urethral sphincter dysfunction Posterior urethral valve Primary megaureter, adult-onset form 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 6859-3281 Caione Caione Caione Caione Caione Caione Caione 06-68592337 06-68592337 06-68592337 06-68592337 06-68592337 06-68592337 06-68592337 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Paolo Caione 06-68592337 [email protected] Paolo Caione 06-68592337 [email protected] S. Gerocarni Nappo Paolo Caione 06-68592430 [email protected] 06-68592337 [email protected] Paolo Paolo Paolo Paolo Caione Caione Caione Caione 06-68592337 06-68592337 06-68592337 06-68592337 [email protected] [email protected] [email protected]t [email protected] S. Gerocarni Nappo Familial vesicoureteral reflux Paolo Caione Sindrome di Fowler Paolo Caione Genetic renal or urinary tract malformation Paolo Caione 06-68592430 [email protected] 06-68592337 06-68592337 06-68592337 [email protected] [email protected] [email protected] Paolo Caione 06-68592337 [email protected] Paolo Caione S. Gerocarni Nappo Paolo Caione Paolo Caione Paolo Caione Paolo Caione Paolo Caione Paolo Caione 06-68592337 06-68592430 [email protected] [email protected] 06-68592337 [email protected] 06-68592337 06-68592337 06-68592337 06-68592337 [email protected] [email protected] [email protected] [email protected] Paolo Caione 06-68592337 [email protected] S. Gerocarni Nappo Paolo Caione 06-68592430 [email protected] 06-68592337 [email protected] S. Gerocarni Nappo Paolo Caione 06-68592430 [email protected] 06-68592337 [email protected] Paolo Paolo Paolo Paolo Caione Caione Caione Caione 06-68592337 06-68592337 06-68592337 06-68592337 [email protected] [email protected] [email protected] [email protected] S. Gerocarni Nappo Paolo Caione 06-68592430 [email protected] 06-68592337 [email protected] S. Gerocarni Nappo Paolo Caione Paolo Caione 06-68592430 [email protected] 06-68592337 06-68592337 [email protected] [email protected] S. Gerocarni Nappo Paolo Caione 06-68592430 [email protected] 06-68592337 [email protected] Duplicazione dell'uretra Estrofia-epispadia complessa BEEC Estrofia-epispadia della vescica-estrofia della cloaca complessa EEC Malformazione genetica del tratto urogenitale Vescica neurogena non neurogena Sindrome di Hinman Sindrome della vescica dolorosa Malacoplachia Sindrome megacisti-megauretere Sindrome megauretere-megacisti Non-rare urogenital disease Malformazione non sindromica del tratto urinario o renale Malformazione non sindromica del tratto urogenitale Nonsyndromic urogenital tract malformation of female Nonsyndromic urogenital tract malformation of male Nonsyndromic urogenital tract malformation of male and female Malformazione uterovaginale non sindromica Sindrome di Ochoa Idronefrosi - sorriso invertito Sindrome urofacciale Sorriso invertito - vescica nefropatica occulta Paralisi facciale parziale associata a anomalie urinarie Ovaio policistico - disfunzione dello sfintere uretrale Sindrome di Fowler-Christmas-Chapple Rare genetic urogenital disease Valvola uretrale posteriore Megauretere primitivo, forma a esordio nell'adulto Anomalia urogenitale genetica Rare urogenital disease Malattia genitourinaria rara Aggiornamento 04/12/2012 Medico referente 37/270 PatTag (english label) Lbl Medico referente Telefono e-mail Renal or urinary tract malformation Malformazione del tratto urinario o renale Paolo Caione 06-68592337 [email protected] Septate uterus Septate vagina Spina bifida - hypospadias Spina bifida aperta Utero settato Vagina settata Spina bifida ipospadia Spina bifida aperta Paolo Caione Paolo Caione Paolo Caione Giovanni Mosiello 06-68592337 06-68592337 06-68592337 06-68592643 [email protected] [email protected] [email protected] [email protected] Spina bifida cystica Spina bifida cistica Giovanni Mosiello 06-68592643 [email protected] S. Gerocarni Nappo Paolo Caione 06-68592430 [email protected] 06-68592337 [email protected] Malformazione sindromica del tratto Syndromic renal or urinary tract malformation urinario o renale Syndromic urogenital tract malformation Malformazione sindromica del tratto urogenitale Syndromic uterovaginal malformation Malformazione uterovaginale sindromica Maria C. Lucchetti 06-68592207 [email protected] Total septate uterus Utero settato totale Maria C. Lucchetti 06-68592207 [email protected] Transverse vaginal septum True unicornuate uterus Setto vaginale trasversale Utero unicorne senza corno rudimentale Paolo Caione 06-68592337 Maria C. Lucchetti 06-68592207 [email protected] [email protected] True unicornuate uterus True unicornuate uterus Paolo Caione Paolo Caione 06-68592337 06-68592337 [email protected] [email protected] Unicervical bicornuate uterus Unilateral aplasia of the Müllerian duct Unilateral aplasia of the Müllerian duct Utero unicorne vero Aplasia unilaterale completa del dotto mülleriano Utero bicorne unicervicale Utero unicorne Aplasia monolaterale del dotto Mülleriano 06-68592337 06-68592337 06-68592430 [email protected] [email protected] [email protected] Urachal cyst Urogenital tract malformation Uterine cervical aplasia and agenesis Uterine hypoplasia Uterovaginal malformation Vaginal atresia Cisti dell'uraco Malformazione del tratto urogenitale Aplasia e agenesia del collo dell'utero Ipoplasia uterina Malformazione uterovaginale Atresia vaginale Paolo Caione Paolo Caione S. Gerocarni Nappo Paolo Caione Paolo Caione Paolo Caione Paolo Caione Paolo Caione Maria C. Lucchetti 06-68592337 06-68592337 06-68592337 06-68592337 06-68592337 06-68592207 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 45,X/46,XY mixed gonadal dysgenesis Disgenesia gonadica mista 45,X/46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 45,X/46,XY mixed gonadal dysgenesis Disgenesia gonadica mista 45,X0/46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 45,X/46,XY mixed gonadal dysgenesis MGD 45,X/46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 45,X/46,XY mixed gonadal dysgenesis MGD 45,X0/46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia 46,XX androgen-induced disorder of sex development due to maternal adrenal tumor 46,XX androgen-induced disorder of sex development due to maternal androluteoma 46,XX androgen-induced disorder of sex development due to maternal arrhenoblastoma 46,XX androgen-induced disorder of sex development due to maternal Krukenberg's tumor 46,XX disorder of sex development Disturbi dello sviluppo sesuale 46,XX da Marco Cappa androgeni per iperplasia surrenale materna (06) 6859-3075/2963 [email protected] Disturbi dello sviluppo sesuale 46,XX da androgeni per tumore surrenale materno Marco Cappa (06) 6859-3075/2963 [email protected] Disturbi dello sviluppo sesuale 46,XX da androgeni per androluteoma materno Marco Cappa (06) 6859-3075/2963 [email protected] Disturbi dello sviluppo sesuale 46,XX da androgeni per arrenoblastoma materno Marco Cappa (06) 6859-3075/2963 [email protected] Disturbi dello sviluppo sesuale 46,XX da androgeni per tumore di Krukenberg materno Disturbi dello sviluppo sessuale 46,XX Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX disorder of sex development Pseudoermafroditismo femminile Marco Cappa (06) 6859-3075/2963 [email protected] Disturbi dello sviluppo sessuale 46,XX anomalie anorettali Pseudoermafroditismo femminile anomalie anorettali Disturbi dello sviluppo sessuale 46,XX anomalie scheletriche Pseudoermafroditismo femminile anomalie scheletriche Sviluppo sessuale 46,XX dovuto a progestinico orale sintetico o dietilstilbestrolo Malattia dello sviluppo sessuale 46,XX da testosterone o altri steroidi Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX disorder of sex development induced by androgen of maternal origin Malattia dello sviluppo sessuale 46,XX da androgeni di origine materna Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX disorder of sex development induced by androgens 46,XX Disorder of sex development induced by androgens of fetal origin 46,XX gonadal dysgenesis Malattia dello sviluppo sessuale da androgeni 46,XX Malattia dello sviluppo sessuale 46,XX da androgeni, di origine fetale Disgenesia gonadica 46,XX Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 marco.c[email protected] 46,XX gonadal dysgenesis Disgenesia gonadica completa 46,XX Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis Disgenesia gonadica pura 46,XX Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis Disgenesia ipergonadotropica delle ovaie Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis Disgenesia ovarica 46,XX Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis FSH-RO Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX disorder of sex development anorectal anomalies 46,XX disorder of sex development anorectal anomalies 46,XX disorder of sex development skeletal anomalies 46,XX disorder of sex development skeletal anomalies 46,XX disorder of sex development to synthetic oral progestagen or diethylstilbestrol 46,XX disorder of sex development to testosterone or related steroids Aggiornamento 04/12/2012 due due 38/270 PatTag (english label) Lbl Medico referente Telefono e-mail 46,XX gonadal dysgenesis Ovaie resistenti all'ormone follicolostimolante Insufficienza ovarica prematura Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis Insufficienza ovarica primitiva Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis POF Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX gonadal dysgenesis Resistenza a FSH Marco Cappa (06) 6859-3075/2963 [email protected] 46,XX iatrogenic androgen-induced disorder of sex development of maternal origin 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development 46,XY complete gonadal dysgenesis Disturbi iatrogenici dello sviluppo sesuale 46,XX da androgeni Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome del maschio XX Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di De la Chapelle Marco Cappa (06) 6859-3075/2963 [email protected] Disgenesia gonadica completa 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY complete gonadal dysgenesis CGD 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY complete gonadal dysgenesis Disgenesia gonadica pura 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY complete gonadal dysgenesis PGD 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY complete gonadal dysgenesis Sindrome di Swyer Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY disorder of sex development Disturbo dello sviluppo sessuale 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY disorder of sex development adrenal insufficiency 46,XY disorder of sex development adrenal insufficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a defect in an androgen-dependent target tissue 46,XY disorder of sex development due to a defect in synthesis, secretion, or response to antimullerian hormone Disturbo dello sviluppo sessuale 46,XY insufficienza surrenalica Reversione sessuale XY - insufficienza surrenalica Disturbi dello sviluppo sessuale 46,XY da deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3 Deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di 17-cheto reduttasi Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di 17-cheto-steroido reduttasi Marco Cappa (06) 6859-3075/2963 [email protected] Pseudoermafroditismo maschile da deficit di 17 beta-idrossisteroido deidrogenasi, tipo 3 Pseudoermafroditismo maschile con ginecomastia Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Disturbo dello sviluppo sessuale 46,XY da deficit di 5-alfa-reduttasi 2 Pseudoermafroditismo maschile da deficit di 5-alfa-reduttasi 2 Disturbi dello sviluppo sessuale 46,XY dovuti a un difetto del tessuto bersaglio androgeni-dipendente Disturbo dello sviluppo sessuale 46,XY da difetti della sintesi, secrezione o risposta all'ormone antimulleriano Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to an end-organ resistance to androgenic hormones 46,XY disorder of sex development due to an enzyme defect primarily affecting testicular testosterone biosynthesis Disturbo dello sviluppo sessuale 46,XY da difetti del metabolismo periferico del testosterone Disturbi dello sviluppo sessuale 46,XY dovuti a resistenza dell'organo bersaglio agli androgeni Disturbo dello sviluppo sessuale 46,XY da difetto enzimatico che colpisce per prima la biosintesi del testosterone testicolare Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY disorder of sex development due to an enzyme deficit affecting synthesis of both corticosteroids and testosterone Disturbo dello sviluppo sessuale 46,XY, da Marco Cappa deficit enzimatico che interessa la sintesi dei corticosteroidi e del testosterone (06) 6859-3075/2963 [email protected] 46,XY disorder of sex development due to an inborn error of testosterone biosynthesis 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency Disturbi dello sviluppo sessuale 46,XY dovuti a difetti congeniti della biosintesi del testosterone Disturbi 46,XY dello sviluppo sessuale dovuti a deficit isolato di 17,20-liasi Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY disorder of sex development due to testicular unresponsiveness to hCG and LH 46,XY gonadal dysgenesis - motor and sensory neuropathy 46,XY partial gonadal dysgenesis Disturbi dello sviluppo sessuale 46,XY dovuti a insensibilità testicolare a HCG e LH Disgenesia gonadica 46,XY - neuropatia sensitivo-motoria Disgenesia gonadica parziale 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY partial gonadal dysgenesis Disgenesia testicolare parziale 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] 46,XY partial gonadal dysgenesis PGD 46,XY Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 39/270 PatTag (english label) Lbl 46,XY sex development disorder due to environnemental chemical exposure Disturbo dello sviluppo sessuale 46,XY da esposizione chimica ambientale 46,XY sex development disorder due to maternal ingestion of progestagen and estrogen Achondrogenesis Medico referente Telefono e-mail Marco Cappa (06) 6859-3075/2963 [email protected] Disturbo dello sviluppo sessuale 46,XY da ingestione materna di progestagene ed estrogene Acondrogenesi Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Achondrogenesis type 1A Acondrogenesi, tipo 1A Marco Cappa (06) 6859-3075/2963 [email protected] Achondrogenesis type 1A Acondrogenesi, tipo Houston-Harris Marco Cappa (06) 6859-3075/2963 [email protected] Achondrogenesis type 1B Acondrogenesi, tipo 1B Marco Cappa (06) 6859-3075/2963 [email protected] Achondrogenesis type 1B Acondrogenesi, tipo Parenti-Fraccaro Marco Cappa (06) 6859-3075/2963 [email protected] Achondrogenesis type 2 Acondrogenesi, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Achondrogenesis type 2 Acondrogenesi, tipo Langer-Saldino Marco Cappa (06) 6859-3075/2963 [email protected] Achondroplasia Acondroplasia Marco Cappa (06) 6859-3075/2963 [email protected] Achondroplasia - severe combined immunodeficiency Achondroplasia - severe combined immunodeficiency Achondroplasia and FGFR3 anomaly Acondroplasia agammaglobulinemia, tipo Svizzero Deficit immunitario con nanismo ad arti corti Acondroplasia e anomalia di FGFR3 Marco Cappa (06) 6859-3075/2963 [email protected] Acquired chronic primary adrenal insufficiency Acquired generalized lipodystrophy Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Insufficienza surrenale primaria cronica acquisita Lipodistrofia generalizzata acquisita Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Acquired generalized lipodystrophy Diabete lipoatrofico acquisito Marco Cappa (06) 6859-3075/2963 [email protected] Acquired generalized lipodystrophy Sindrome di Lawrence Marco Cappa (06) 6859-3075/2963 [email protected] Acquired generalized lipodystrophy Sindrome di Lawrence-Seip Marco Cappa (06) 6859-3075/2963 [email protected] Acquired lipodystrophy Lipodistrofia acquisita Marco Cappa (06) 6859-3075/2963 [email protected] Acquired pituitary hormone deficiency Deficit acquisito degli ormoni pituitari, escluso il craniofaringioma Insufficienza ovarica precoce acquisita Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Acquired premature ovarian failure Acromegaly GRFoma Marco Cappa (06) 6859-3075/2963 [email protected] ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia ACTH independent Cushing syndrome due to unilateral tumor ACTH-dependent Cushing syndrome Sindrome di Cushing ACTH-indipendente da iperplasia adrenocorticale bilaterale Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Cushing ACTH-indipendente da tumore unilaterale Sindrome di Cushing ACTH-dipendente Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] ACTH-independent Cushing syndrome Sindrome di Cushing non ACTH-dipendente Marco Cappa (06) 6859-3075/2963 [email protected] ACTH-independent macronodular adrenal Iperplasia macronodulare dei surreni ACTH- Marco Cappa hyperplasia indipendente Marco Cappa ACTH-independent macronodular adrenal AIMAH hyperplasia Acute adrenal insufficiency Insufficienza surrenalica acuta Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Addison disease Malattia di Addison Marco Cappa (06) 6859-3075/2963 [email protected] Addison disease Insufficienza surrenalica cronica acquisita Marco Cappa (06) 6859-3075/2963 [email protected] Addison disease Ipocortisolismo acquisito Marco Cappa (06) 6859-3075/2963 [email protected] Adenohypophysitis Adenoipofisite Marco Cappa (06) 6859-3075/2963 [email protected] Adenohypophysitis Ipofisite dell'ipofisi anteriore Marco Cappa (06) 6859-3075/2963 [email protected] Adrenal incidentaloma Incidentaloma surrenale Marco Cappa (06) 6859-3075/2963 [email protected] Adrenocortical adenoma Adenoma adrenocorticale Marco Cappa (06) 6859-3075/2963 [email protected] Adrenocortical carcinoma Corticosurrenaloma Marco Cappa (06) 6859-3075/2963 [email protected] Adrenogenital syndrome Adrenogenital syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Aldosterone-producing adenoma Adenoma producente aldosterone Marco Cappa (06) 6859-3075/2963 [email protected] Aldosterone-producing adenoma APA Marco Cappa (06) 6859-3075/2963 [email protected] Aldosterone-producing adenoma Adenoma di Conn Marco Cappa (06) 6859-3075/2963 [email protected] Aldosterone-producing adenoma Adenoma secernente aldosterone Marco Cappa (06) 6859-3075/2963 [email protected] Aldosterone-producing adenoma Marco Cappa (06) 6859-3075/2963 [email protected] Aldosterone-producing adenoma Aldosteronismo primitivo da adenoma di Conn Aldosteronoma Marco Cappa (06) 6859-3075/2963 [email protected] Alobar holoprosencephaly Oloprosencefalia alobare Marco Cappa (06) 6859-3075/2963 [email protected] Alström syndrome Sindrome di Alström Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 40/270 PatTag (english label) Lbl Medico referente Telefono e-mail Androgen insensitivity syndrome Sindrome da insensibilità agli androgeni Marco Cappa (06) 6859-3075/2963 [email protected] Androgen insensitivity syndrome AIS Marco Cappa (06) 6859-3075/2963 [email protected] Androgen insensitivity syndrome Sindrome da femminilizzazione testicolare Marco Cappa (06) 6859-3075/2963 [email protected] Androgen insensitivity syndrome Sindrome da resistenza agli androgeni Marco Cappa (06) 6859-3075/2963 [email protected] Androgen insensitivity syndrome Sindrome di Goldberg-Maxwell Marco Cappa (06) 6859-3075/2963 [email protected] Androgen insensitivity syndrome Sindrome di Morris Marco Cappa (06) 6859-3075/2963 [email protected] Androgen insensitivity syndrome Pseudoermafroditismo Marco Cappa (06) 6859-3075/2963 [email protected] ANE syndrome Sindrome ANE Marco Cappa (06) 6859-3075/2963 [email protected] ANE syndrome Alopecia - difetto neurologico progressivo - Marco Cappa endocrinopatia Anomalia della pubertà e/o del ciclo Marco Cappa mestruale Anomalia della pubertà e/o del ciclo Marco Cappa mestruale di origine genetica Deficit di aromatasi Marco Cappa (06) 6859-3075/2963 [email protected] Anomaly of puberty or/and menstrual cycle Anomaly of puberty or/and menstrual cycle of genetic origin Aromatase deficiency (06) 6859-3075/2963 [email protected] Aromatase excess syndrome Sindrome da eccesso di aromatosi Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Athyreosis Atireosi Marco Cappa (06) 6859-3075/2963 [email protected] Atypical Mayer-Rokitansky-Küster-Hauser syndrome Atypical Mayer-Rokitansky-Küster-Hauser syndrome Atypical Mayer-Rokitansky-Küster-Hauser syndrome Atypical Mayer-Rokitansky-Küster-Hauser syndrome Atypical Werner syndrome Sindrome atipica di Mayer-RokitanskyKüster-Hauser Deficit di WNT4 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome MRKH atipica Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Rokitansky atipica Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome atipica di Werner Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune hypoparathyroidism Ipoparatiroidismo autoimmune Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Poliendocrinopatia autoimmune, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 APSI Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Deficit endocrino multiplo - malattia di Addison - candidiasi Ipoparatiroidismo - malattia di Addison candidiasi mucocutanea Ipoparatiroidismo autoimmune - candidiasi cronica - malattia di Addison Poliendocrinopatia autoimmune candidiasi - distrofia ectodermia sindromica Sindrome APECED Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Sindrome HAM Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 1 Sindrome MEDAC Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Sindrome poliendocrina autoimmune, tipo 1 Sindrome polighiandolare autoimmune, tipo 1 Insufficienza surrenalica primaria Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 2 Poliendocrinopatia autoimmune, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 2 APS, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 2 APS2 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 2 Malattia tiroidea autoimmune e/o diabete tipo 1 - malattia di Addison Sindrome di Schmidt Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome poliendocrina autoimmune , tipo 2 Sindrome poliendocrina autoimmune, tipo 2 Sindrome polighiandolare autoimmune, tipo 2 Insufficienza surrenalica primaria Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 3 Poliendocrinopatia autoimmune, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 3 APS, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 3 APS3 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 3 Sindrome poliendocrina autoimmune, tipo 3 Sindrome polighiandolare autoimmune, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 3 Aggiornamento 04/12/2012 41/270 PatTag (english label) Lbl Medico referente Telefono e-mail Autoimmune polyendocrinopathy type 4 Poliendocrinopatia autoimmune, tipo 4 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 4 APS, tipo 4 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 4 APS4 Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 4 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 4 Sindrome poliendocrina autoimmune, tipo 4 Sindrome polighiandolare autoimmune, tipo 4 Insufficienza surrenalica primitiva Marco Cappa (06) 6859-3075/2963 [email protected] Autosomal dominant hypocalcemia Ipocalcemia autosomica dominante Marco Cappa (06) 6859-3075/2963 [email protected]opbg.net Autosomal recessive Kenny-Caffey syndrome Bamforth syndrome Sindrome di Kenny-Caffey, autosomica recessiva Sindrome di Bamforth Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Bamforth syndrome Ipotiroidismo - schisi palatina Marco Cappa (06) 6859-3075/2963 [email protected] Bamforth syndrome Sindrome di Bamforth-Lazarus Marco Cappa (06) 6859-3075/2963 [email protected] Bangstad syndrome Sindrome di Bangstad Marco Cappa (06) 6859-3075/2963 [email protected] Bangstad syndrome Atassia - diabete - gozzo - insufficienza gonadica Berardinelli-Seip congenital lipodystrophy BSCL Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Berardinelli-Seip congenital lipodystrophy Diabete lipoatrofico Marco Cappa (06) 6859-3075/2963 [email protected] Berardinelli-Seip congenital lipodystrophy GCL Marco Cappa (06) 6859-3075/2963 [email protected] Berardinelli-Seip congenital lipodystrophy Lipodistrofia generalizzata congenita Marco Cappa (06) 6859-3075/2963 [email protected] Berardinelli-Seip congenital lipodystrophy Sindrome di Berardinelli-Seip Marco Cappa (06) 6859-3075/2963 [email protected] Berardinelli-Seip congenital lipodystrophy Sindrome di Brunzell Marco Cappa (06) 6859-3075/2963 [email protected] Bilateral anorchia Anorchidia bilaterale Marco Cappa (06) 6859-3075/2963 [email protected] Bilateral anorchia Assenza congenita dei testicoli Marco Cappa (06) 6859-3075/2963 [email protected] Bilateral anorchia Sindrome da regressione testicolare (TRS) Marco Cappa (06) 6859-3075/2963 [email protected] Bilateral anorchia Sindrome da scomparsa dei testicoli Marco Cappa (06) 6859-3075/2963 [email protected] Blake's pouch cyst Cisti della tasca di Blake Marco Cappa (06) 6859-3075/2963 [email protected] Brachydactylous dwarfism, Mseleni type Nanismo-brachidattilia, tipo Mseleni Marco Cappa (06) 6859-3075/2963 [email protected] Autoimmune polyendocrinopathy type 4 Brain-lung-thyroid syndrome Sindrome cervello-polmone-tiroide Marco Cappa (06) 6859-3075/2963 [email protected] Brain-lung-thyroid syndrome Coreoatetosi - ipotiroidismo - distress respiratorio neonatale Complesso di Carney Marco Cappa (06) 6859-3075/2963 [email protected] Carney complex Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Carney complex Mixoma - iperpigmentazione - iperattività endocrina Mixoma - macchie pigmentarie iperattività endocrina Sindrome di Carney Marco Cappa (06) 6859-3075/2963 [email protected] Carney complex Sindrome LAMB Marco Cappa (06) 6859-3075/2963 [email protected] Carney triad Triade di Carney Marco Cappa (06) 6859-3075/2963 [email protected] Central congenital hypothyroidism Ipotiroidismo centrale congenito Marco Cappa (06) 6859-3075/2963 [email protected] Central congenital hypothyroidism Ipotiroidismo secondario Marco Cappa (06) 6859-3075/2963 [email protected] Carney complex Carney complex Central diabetes insipidus Central diabetes insipidus Marco Cappa (06) 6859-3075/2963 [email protected] Central precocious puberty Pubertà precoce centrale Marco Cappa (06) 6859-3075/2963 [email protected] Central precocious puberty Pubertà precoce dipendente dalle gonadotropine Lipodistrofia centrifuga Marco Cappa (06) 6859-3075/2963 [email protected] Centrifugal lipodystrophy Marco Cappa (06) 6859-3075/2963 [email protected] Cerebellar ataxia - hypogonadism Atassia cerebellare - ipogonadismo Marco Cappa (06) 6859-3075/2963 [email protected] Cerebellar ataxia - hypogonadism Deficit dell'ormone rilasciante l'ormone luteinizzante - atassia Canalopatia da difetti del canale epiteliale del sodio Condrodisplasia - disturbo dello sviluppo sessuale Condrodisplasia - pseudoermafroditismo Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected]opbg.net Marco Cappa (06) 6859-3075/2963 [email protected] Condrodistrofia Marco Cappa (06) 6859-3075/2963 [email protected] Disostosi Marco Cappa (06) 6859-3075/2963 [email protected] Coroideremia - ipopituitarismo Marco Cappa (06) 6859-3075/2963 [email protected] Channelopathy due to an epithelial sodium channel defect Chondrodysplasia - disorder of sex development Chondrodysplasia - disorder of sex development Chondrodysplasia - disorder of sex development Chondrodysplasia - disorder of sex development Choroideremia - hypopituitarism Aggiornamento 04/12/2012 42/270 PatTag (english label) Lbl Medico referente Telefono e-mail Chronic primary adrenal insufficiency Insufficienza surrenale primaria cronica Marco Cappa (06) 6859-3075/2963 [email protected] Combined pituitary hormone deficiencies, genetic forms Combined pituitary hormone deficiencies, genetic forms Combined pituitary hormone deficiencies, genetic forms Complete androgen insensitivity syndrome Complete androgen insensitivity syndrome Complete androgen insensitivity syndrome Congenital adrenal hyperplasia Deficit combinati dell'ormone ipofisario, forme genetiche Deficit multipli dell'ormone ipofisario, forme genetiche Ipopituitarismo familiare congenito Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome da insensibilità completa agli androgeni CAIS Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome da resistenza completa agli androgeni Iperplasia congenita dei surreni Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Congenital adrenal hyperplasia due to 11- Iperplasia surrenale congenita da deficit di Marco Cappa 11-beta-idrossilasi beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17- Iperplasia surrenale congenita da deficit di Marco Cappa 17-alfa-idrossilasi alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 21- Iperplasia surrenalica congenita da deficit Marco Cappa hydroxylase deficiency, classic form di 21-idrossilasi, forma classica (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Congenital adrenal hyperplasia due to 3- Iperplasia surrenalica congenita da deficit di 3-beta-idrossisteroidi beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to Iperplasia surrenalica congenita da deficit cytochrome P450 oxidoreductase di citocromo P450 ossidoreduttasi (POR) deficiency Ipoplasia surrenalica congenita con origine Congenital adrenal hypoplasia of maternal cause materna Congenital central diabetes insipidus Diabete insipido centrale congenito Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Congenital hypogonadotropic hypogonadism Congenital hypothalamic hamartoma syndrome Congenital hypothalamic hamartoma syndrome Congenital hypothyroidism Ipogonadismo ipogonadotropo congenito Marco Cappa Sindrome dell'amartoma ipotalamico congenito CHHS Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Ipotiroidismo congenito Marco Cappa (06) 6859-3075/2963 [email protected] Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to transplacental passage of maternal TSHbinding inhibitory antibodies Congenital isolated ACTH deficiency Ipotiroidismo congenito da anomalia dello sviluppo Ipotiroidismo congenito primitivo da anomalia dello sviluppo Ipotiroidismo congenito da assunzione materna di farmaci antitiroidei Ipotiroidismo congenito dovuto al passaggio transplacentare degli anticorpi materni anti-TSH Deficit congenito isolato di ACTH Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Congenital isolated thyroxine-binding globulin deficiency Congenital isolated thyroxine-binding globulin deficiency Congenital lipoid adrenal hyperplasia Deficit congenito isolato di globuline leganti la tiroxina Deficit congenito isolato di TBG Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Iperplasia surrenalica lipoide congenita (deficit di STAR) Malformazione tiroidea congenita senza ipotiroidismo Utero cordiforme Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Congenital thyroid malformation without hypothyroidism Cordiformis uterus Marco Cappa (06) 6859-3075/2963 [email protected] Disgenesia del corpo calloso Corpus callosum dysgenesis hypopituitarism ipopituitarismo Corticosteroid-binding globulin deficiency Deficit di transcortina Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Cushing disease Malattia di Cushing Marco Cappa (06) 6859-3075/2963 [email protected] Cushing disease Adenoma corticotropo ipofisario Marco Cappa (06) 6859-3075/2963 [email protected] Cushing disease Microadenoma corticotropo ipofisario Marco Cappa (06) 6859-3075/2963 [email protected] Cushing syndrome Sindrome di Cushing Marco Cappa (06) 6859-3075/2963 [email protected] Cushing syndrome GRFoma Marco Cappa (06) 6859-3075/2963 [email protected] Cushing syndrome Insufficienza surrenalica secondaria Marco Cappa (06) 6859-3075/2963 [email protected] Cytomegalic congenital adrenal hypoplasia Cytomegalic congenital adrenal hypoplasia Dahlberg-Borer-Newcomer syndrome Ipoplasia surrenalica congenita, tipo Marco Cappa citomegalico Ipoplasia surrenalica congenita legata all'X Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Linfedema - ipoparatiroidismo Marco Cappa (06) 6859-3075/2963 [email protected] Deafness - hypogonadism Sordità - ipogonadismo Marco Cappa (06) 6859-3075/2963 [email protected] DEND syndrome Sindrome DEND Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] DEND syndrome Ritardo dello sviluppo - epilessia - diabete neonatale Diabetes associated to exocrine pancreas Diabete associato a neoplasia neoplasia Diabetes mellitus type 1 Diabete mellito, tipo 1 Aggiornamento 04/12/2012 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] 43/270 PatTag (english label) Lbl Medico referente Telefono e-mail Diabetic embryopathy Embriopatia diabetica Marco Cappa (06) 6859-3075/2963 [email protected] Diastrophic dwarfism Nanismo diastrofico Marco Cappa (06) 6859-3075/2963 [email protected] Dilated cardiomyopathy hypergonadotropic hypogonadism Dilated cardiomyopathy hypergonadotropic hypogonadism Dilated cardiomyopathy hypergonadotropic hypogonadism Dilated cardiomyopathy hypergonadotropic hypogonadism Disease associated with nonacquired combined pituitary hormone deficiency Cardiomiopatia dilatativa - ipogonadismo ipergonadotropo Sindrome cardiogenitale Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Malouf Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Najjar Marco Cappa (06) 6859-3075/2963 [email protected] Malattia associata a deficit combinato degli Marco Cappa ormoni ipofisari non acquisito (06) 6859-3075/2963 [email protected] Disorder in the hormonal synthesis with or without goiter Disorder of sex development Difetti dell'ormonosintesi con o senza gozzo Anomalie dello sviluppo sessuale Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Disorder of sex development intellectual deficit Disorder of sex development intellectual deficit Disorder of sex development of endocrine origin Disorders of vitamin D metabolism Disturbo dello sviluppo sessuale - ritardo mentale Pseudoermafroditismo - ritardo mentale Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Malattia dello sviluppo sessuale di origine endocrina Disorders of vitamin D metabolism Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Dysgenetic 46,XY disorder of sex development Ectopic aldosterone-producing tumor Disturbo disgenetico dello sviluppo sessuale 46,XY Tumore secernente aldosterone ectopico Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Ectopic aldosterone-producing tumor Marco Cappa (06) 6859-3075/2963 [email protected] Ectopic Cushing syndrome Tumore extra-surrenalica secernente aldosterone Sindrome ectopica di Cushing Marco Cappa (06) 6859-3075/2963 [email protected] Ectopic Cushing syndrome Sindrome paraneoplastica di Cushing Marco Cappa (06) 6859-3075/2963 [email protected] Ectopic Cushing syndrome Tumore ectopico secernente ACTH Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine myopathy Miopatia endocrina Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine tumor Tumore endocrino Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine tumor APUDoma Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine tumor Tumore carcinoide Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine tumor Tumore neuroendocrino Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine tumor Tumore endocrino Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine tumor with genetic susceptibility factors Endocrine tumor with other location Tumore endocrino associato a fattori genetici di suscettibilità Tumore endocrino con altra localizzazione Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Endocrine-cerebro-osteodysplasia syndrome Endocrine-cerebro-osteodysplasia syndrome Estrogen resistance syndrome Sindrome endocrino-cerebroosteodisplastica Sindrome ECO Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome da resistenza agli estrogeni Marco Cappa (06) 6859-3075/2963 [email protected] Familial adrenal hypoplasia Ipoplasia surrenalica familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial dysalbuminemic hyperthyroxinemia Familial dysalbuminemic hyperthyroxinemia Familial dysalbuminemic hyperthyroxinemia Familial dysalbuminemic hyperthyroxinemia Familial dysfibrinogenemia Ipertiroxinemia disalbuminemica familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial gestational hyperthyroidism Analbuminemia Marco Cappa (06) 6859-3075/2963 [email protected] Bisalbuminemia Marco Cappa (06) 6859-3075/2963 [email protected] FDH Marco Cappa (06) 6859-3075/2963 [email protected] Disfibrinogenemia familiare Marco Cappa (06) 6859-3075/2963 [email protected] Ipertiroidismo familiare gestazionale Marco Cappa (06) 6859-3075/2963 [email protected] Familial glucocorticoid deficiency Deficit familiare di glucocorticoidi Marco Cappa (06) 6859-3075/2963 [email protected] Familial glucocorticoid deficiency Resistenza all'ACTH Marco Cappa (06) 6859-3075/2963 [email protected] Familial glucocorticoid deficiency Resistenza all'ormone adrenocorticotropo (ACTH) Insufficienza surrenale primaria Marco Cappa (06) 6859-3075/2963 [email protected] Familial glucocorticoid deficiency Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism Iperaldosteronismo familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 1 Iperaldosteronismo familiare, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 1 Aldosteronismo glucocorticoide-rimediabile Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 1 FH, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 1 GRA Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 1 Ipertensione sensibile ai glucocorticoidi Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 44/270 PatTag (english label) Lbl Medico referente Telefono e-mail Familial hyperaldosteronism type 1 Ipertensione sensibile al desametazone Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 2 Iperaldosteronismo familiare, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 2 Adenoma surrenale familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperaldosteronism type 3 Iperaldosteronismo familiare, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperthyroidism due to mutations in TSH receptor Familial hyperthyroidism due to mutations in TSH receptor Familial hypoaldosteronism Ipoaldosteronismo iperreninemico familiare, tipo 1 CMO 1 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] CMO 2 Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di 18-idrossilasi Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di 18-ossidasi Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di aldosterone sintasi Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di corticosterone metil-ossidasi, tipo Marco Cappa 1 FHHA1 Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Ipoaldosteronismo iperreninemico familiare, tipo 2 Deficit di aldosterone sintasi non legato a CYP11B2 Deficit di aldosterone sintasi non legato al gene dell'aldosterone sintasi FHHA2 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Ipertiroidismo familiare da mutazioni del recettore TSH Ipertiroidismo non immune familiare Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Ipoaldosteronismo familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial hypobetalipoproteinemia Ipobetalipoproteinemia familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial isolated hyperparathyroidism Iperparatiroidismo familiare isolato Marco Cappa (06) 6859-3075/2963 [email protected] Familial isolated hyperparathyroidism FIHPT Marco Cappa (06) 6859-3075/2963 [email protected] Familial isolated hypoparathyroidism Ipoparatiroidismo familiare isolato Marco Cappa (06) 6859-3075/2963 [email protected] Familial isolated hypoparathyroidism due Ipoparatiroidismo isolato familiare da to agenesis of parathyroid gland agenesia delle paratiroidi Familial isolated hypoparathyroidism due Ipoparatiroidismo isolato familiare da to impaired PTH secretion anomalia della secrezione di PTH Gigantomastia Familial juvenile hypertrophy of the breast Ipertrofia mammaria giovanile Familial juvenile hypertrophy of the breast Familial juvenile hypertrophy of the Ipertrofia mammaria virginale breast Familial multinodular goiter Gozzo multinodulare familiare Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Familial multiple fibrofolliculoma Fibrofolliculomi multipli familiari Marco Cappa (06) 6859-3075/2963 [email protected] Familial parathyroid adenoma Adenoma paratiroideo Marco Cappa (06) 6859-3075/2963 [email protected] Familial partial lipodystrophy Lipodistrofia genetica parziale Marco Cappa (06) 6859-3075/2963 [email protected] Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial partial lipodystrophy, Köbberling type Familial partial lipodystrophy, Köbberling type Familial primary hyperparathyroidism Lipodistrofia parziale familiare associata a mutazioni di PPARG FPLD3 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Lipodistrofia parziale familiare, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Lipodistrofia familiare parziale da mutazioni di AKT2 Lipodistrofia parziale familiare, tipo Dunnigan FPLD2 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Lipodistrofia familiare parziale, tipo 2 (FPLD2) Lipodistrofia parziale familiare, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Dunnigan Marco Cappa (06) 6859-3075/2963 [email protected] Lipodistrofia parziale familiare, tipo Köbberling FPLD1 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Lipodistrofia parziale familiare, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Iperparatiroidismo familiare primitivo Marco Cappa (06) 6859-3075/2963 [email protected] Familial primary hypomagnesemia Ipomagnesemia ereditaria primitiva Marco Cappa (06) 6859-3075/2963 [email protected] Familial prolactinoma Prolattinoma familiare Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 45/270 PatTag (english label) Lbl Medico referente Telefono e-mail Familial thyroid dyshormonogenesis Disormonogenesi tiroidea familiare Marco Cappa (06) 6859-3075/2963 [email protected] Familial thyroid dyshormonogenesis Disormonogenesi tiroidea Marco Cappa (06) 6859-3075/2963 [email protected] Generalized pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 Generalized resistance to thyroid hormone Generalized resistance to thyroid hormone Generalized resistance to thyroid hormone Genetic chronic primary adrenal insufficiency Genetic disorder of sex development of endocrine origin Genetic early onset obesity Pseudoipoaldosteronismo generalizzato, tipo 1 Pseudoipoaldosteronismo autosomico recessivo, tipo 1 PHA Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Resistenza generalizzata all'ormone tiroideo Sindrome di Refetoff Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sordità - resistenza all'ormone tiroideo Marco Cappa (06) 6859-3075/2963 [email protected] Insufficienza surrenale primaria cronica genetica Genetic disorder of sex development of endocrine origin Obesità genetica a esordio precoce Marco Cappa (06) 6859-3075/2963 [email protected]pbg.net Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Genetic endocrine growth disease Marco Cappa (06) 6859-3075/2963 [email protected] Genetic hyperparathyroidism Malattia endocrina della crescita, tipo genetico Iperparatiroidismo genetico Marco Cappa (06) 6859-3075/2963 [email protected] Genetic hypoparathyroidism Ipoparatiroidismo genetico Marco Cappa (06) 6859-3075/2963 [email protected] Genetic lipodystrophy Lipodistrofia genetica Marco Cappa (06) 6859-3075/2963 [email protected] Genetic polyendocrinopathy Genetic polyendocrinopathy Marco Cappa (06) 6859-3075/2963 [email protected] Genetic transient congenital hypothyroidism Gigantism Ipotiroidismo congenito da mutazioni eterozigoti di THOX2 Gigantismo Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Gigantism Acromegalia, forme infantili e giovanili Marco Cappa (06) 6859-3075/2963 [email protected] Glucocorticoid resistance Resistenza ai glucocorticoidi Marco Cappa (06) 6859-3075/2963 [email protected] Gonadal differentation disease Malattia della differenziazione gonadica Marco Cappa (06) 6859-3075/2963 [email protected] Gonadal dysgenesis Disgenesia gonadica Marco Cappa (06) 6859-3075/2963 [email protected] Gonadotroph adenoma Adenoma gonadotropo Marco Cappa (06) 6859-3075/2963 [email protected] Gonadotroph adenoma Adenoma ipofisario gonadotropo Marco Cappa (06) 6859-3075/2963 [email protected] Goniodysgenesis Goniodisgenesia Marco Cappa (06) 6859-3075/2963 [email protected] Graft rejection during pancreatic islet transplantation GRFoma Rigetto del trapianto degli isolotti pancreatici GRFoma Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] GRFoma Tumore causato dal fattore che rilascia l'ormone della crescita Tumore da GRF Marco Cappa (06) 6859-3075/2963 [email protected] GRFoma Marco Cappa (06) 6859-3075/2963 [email protected] GRFoma Tumore dovuto a GRF Marco Cappa (06) 6859-3075/2963 [email protected] Growth factor I Growth factor I Growth factor I Growth factor I Growth factor I Growth factor I Growth factor I Growth factor I Growth Ritardo della crescita da deficit del fattore di crescita 1 insulino-simile Deficit di IGF-1 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit primitivo del fattore di crescita insulino-simile Ritardo della crescita - sordità - deficit cognitivo Ritardo della crescita da resistenza al fattore di crescita 1 insulino-simile Resistenza a IGF-1 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Cromosoma 15 ad anello Marco Cappa (06) 6859-3075/2963 [email protected] Delezione 15q delay due to insulin-like growth deficiency delay due to insulin-like growth deficiency delay due to insulin-like growth deficiency delay due to insulin-like growth deficiency delay due to insulin-like growth resistance delay due to insulin-like growth resistance delay due to insulin-like growth resistance delay due to insulin-like growth resistance hormone insensitivity syndrome Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Growth hormone insensitivity syndrome Marco Cappa Sindrome da resistenza all'ormone della crescita Bassa statura da difetto del recettore o del Marco Cappa pathway post-recettoriale dell'ormone della crescita GHIS Marco Cappa (06) 6859-3075/2963 [email protected] HAIR-AN syndrome Sindrome HAIR-AN Marco Cappa (06) 6859-3075/2963 [email protected] HAIR-AN syndrome Sindrome da acanthosis nigricans iperandrogenica insulino-resistente Struma di Hashimoto Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Growth hormone insensitivity syndrome Hashimoto struma Hashimoto struma Ipotiroidismo di Hashimoto Marco Cappa (06) 6859-3075/2963 [email protected] Hashimoto struma Tiroidite di Hashimoto Marco Cappa (06) 6859-3075/2963 [email protected] Holoprosencephaly Oloprosencefalia Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 46/270 PatTag (english label) Lbl Medico referente Telefono e-mail Holoprosencephaly - caudal dysgenesis Oloprosencefalia - disgenesia caudale Marco Cappa (06) 6859-3075/2963 [email protected] Holoprosencephaly - craniosynostosis Oloprosencefalia - craniosinostosi Marco Cappa (06) 6859-3075/2963 [email protected] Holoprosencephaly - craniosynostosis Sindrome di Camera-Lituania-Cohen Marco Cappa (06) 6859-3075/2963 [email protected] Holoprosencephaly - craniosynostosis Sindrome di Genes Marco Cappa (06) 6859-3075/2963 [email protected] Holoprosencephaly - postaxial polydactyly Holoprosencephaly - postaxial polydactyly Holoprosencephaly - radial heart renal anomalies Holoprosencephaly - radial heart renal anomalies Hydrocephalus - obesity - hypogonadism Oloprosencefalia - polidattilia postassiale Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome da pseudotrisomia 13 Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Steinfeld Marco Cappa (06) 6859-3075/2963 [email protected] Oloprosencefalia - anomalie radiali, cardiache e renali Idrocefalo - obesità - ipogonadismo Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Hydrocephalus - obesity - hypogonadism Sindrome di Sengers-Hamel-Otten Hyperandrogenism due to cortisone reductase deficiency Hyperandrogenism due to cortisone reductase deficiency Hypergonadotropic hypogonadism cataract syndrome Hypergonadotropic hypogonadism cataract syndrome Hypogonadism - mitral valve prolapse intellectual deficit Hypogonadotropic hypogonadism frontoparietal alopecia Hypogonadotropic hypogonadism frontoparietal alopecia Hypogonadotropic hypogonadism retinitis pigmentosa Hypogonadotropic hypogonadism retinitis pigmentosa Hypogonadotropic hypogonadism associated with other endocrinopathies Iperandrogenismo da deficit di cortisone reduttasi Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 1 Sindrome ipogonadismo ipergonadotropocataratta Sindrome di Lubinsky Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Ipogonadismo - prolasso della valvola mitrale - ritardo mentale Ipogonadismo ipogonadotropo - alopecia frontoparietale Sindrome di Salti-Salem Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Ipogonadismo ipogonadotropo - retinite pigmentosa Sindrome di Chang-Davidson-Carlson Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Hypogondatropic hypogonadism associated Marco Cappa with other endocrinopathies (06) 6859-3075/2963 [email protected] Hypopituitarism - micropenis - cleft lip/palate Hypopituitarism - microphthalmia Ipopituitarismo - micropene labiopalatoschisi Ipopituitarismo - microftalmia Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Hypopituitarism - microphthalmia Sindrome di Kaplowitz-Bodurtha Marco Cappa (06) 6859-3075/2963 [email protected] Hypopituitarism - postaxial polydactyly Ipopituitarismo - polidattilia postassiale Marco Cappa (06) 6859-3075/2963 [email protected] Hypopituitarism - postaxial polydactyly Sindrome di Culler-Jones Marco Cappa (06) 6859-3075/2963 [email protected] Hypopituitarism - short stature - skeletal anomalies Hypopituitarism - short stature - skeletal anomalies Hyposmia - nasal and ocular hypoplasia hypogonadotropic hypogonadism Nanismo ipofisario - anomalie scheletriche Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Blethen-Wenick-Hawkins Marco Cappa (06) 6859-3075/2963 [email protected] Iposmia - ipoplasia oculare e nasale ipogonadismo ipogonadotropo Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to TSH receptor mutations Iatrogenic Cushing syndrome Ipotiroidismo da deficit dei fattori di Marco Cappa trascrizione implicati nello sviluppo o nella funzione ipofisaria Ipotiroidismo da mutazioni del recettore di Marco Cappa TSH Sindrome iatrogena di Cushing Marco Cappa (06) 6859-3075/2963 [email protected] Iatrogenic or traumatic pituitary deficiency Idiopathic acquired central diabetes insipidus Idiopathic central precocious puberty Deficit ipofisario iatrogenico o traumatico Hyposmia - nasal and ocular hypoplasia - Sindrome di Bosma-Henkin-Christiansen hypogonadotropic hypogonadism (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Diabete insipido acquisito idiopatico Marco Cappa (06) 6859-3075/2963 [email protected] Pubertà precoce centrale idiopatica Marco Cappa (06) 6859-3075/2963 [email protected] Idiopathic congenital hypothyroidism Ipotiroidismo idiopatico congenito Marco Cappa (06) 6859-3075/2963 [email protected] Idiopathic juvenile osteoporosis Osteoporosi giovanile idiopatica Marco Cappa (06) 6859-3075/2963 [email protected] Idiopathic juvenile osteoporosis Osteoporosi giovanile Marco Cappa (06) 6859-3075/2963 [email protected] Idiopathic localized lipodystrophy Lipodistrofia localizzata idiopatica Marco Cappa (06) 6859-3075/2963 [email protected] IMAGe syndrome Sindrome IMAGe Marco Cappa (06) 6859-3075/2963 [email protected] IMAGe syndrome Ritardo della crescita intrauterino displasia metafisaria - ipoplasia congenita dei surreni - anomalie dei genitali Marco Cappa (06) 6859-3075/2963 [email protected] Inappropriate antidiuretic hormone secretion syndrome Inappropriate antidiuretic hormone secretion syndrome Infundibulo-neurohypophysitis Sindrome da secrezione inappropriata dell'ormone antidiuretico SIADH Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Infundibulo-neuroipofisite Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 47/270 PatTag (english label) Lbl Medico referente Telefono e-mail Inherited isolated adrenal insufficiency Inherited isolated adrenal insufficiency Marco Cappa (06) 6859-3075/2963 [email protected] Intellectual deficit - dysmorphism hypogonadism - diabetes mellitus Intermediate DEND syndrome Ritardo mentale - dismorfismi ipogonadismo - diabete mellito Sindrome DEND intermedia Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Isolated congenital hypogonadotropic hypogonadism Isolated follicle stimulating hormone deficiency Isolated follicle stimulating hormone deficiency Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Isolated growth hormone deficiency type II Isolated growth hormone deficiency type II Isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Isolated growth hormone deficiency type III Isolated growth hormone deficiency type III Isolated growth hormone deficiency type III Isolated growth hormone deficiency type III Isolated growth hormone deficiency type III Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency Kallmann syndrome Ipogonadismo ipogonadotropo congenito isolato Deficit isolato dell'ormone follicolostimolante (FSH) Mutazione del recettore di FSH Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato dell'ormone della crescita, tipo 1A Deficit isolato congenito dell'ormone della crescita, tipo 1A Deficit isolato congenito di GH, tipo 1A Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] IGHD congenito, tipo 1A Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato dell'ormone della crescita, tipo 1B Deficit isolato congenito dell'ormone della crescita, tipo 1B Deficit isolato congenito di GH, tipo 1B Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] IGHD congenito, tipo 1B Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato dell'ormone della crescita, tipo 2 Deficit isolato congenito dell'ormone della crescita, tipo 2 Deficit isolato congenito di GH, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] IGHD congenito, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato dell'ormone della crescita, tipo 3 Deficit isolato congenito dell'ormone della crescita, tipo 3 Deficit isolato congenito di GH, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato legato all'X dell'ormone della Marco Cappa crescita IGHD congenito, tipo 3 Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] IGHD legato all'X Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato tiroide Deficit isolato tireotropina Deficit isolato tireotropina Deficit isolato dell'ormone stimolante la Marco Cappa (06) 6859-3075/2963 [email protected] dell'ormone di rilascio della Marco Cappa (06) 6859-3075/2963 [email protected] del fattore di rilascio della Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato di TRF del fattore di rilascio di TSH Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato di TRH Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato di protirelina Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato di protireoliberina Marco Cappa (06) 6859-3075/2963 [email protected] Deficit isolato di tireoliberina Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Kallmann Marco Cappa (06) 6859-3075/2963 [email protected] Kallmann syndrome - heart disease Sindrome di Kallmann - cardiopatia Marco Cappa (06) 6859-3075/2963 [email protected] Klinefelter syndrome Sindrome di Klinefelter Marco Cappa (06) 6859-3075/2963 [email protected] Klinefelter syndrome Sindrome 47,XXY Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome Sindrome di Laron Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome Bassa statura da resistenza all'ormone della crescita Deficit del recettore dell'ormone della crescita Deficit del recettore di GH Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome Insensibilità primaria al GH Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome Insensibilità primaria all'ormone della crescita Nanismo, tipo Laron Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Resistenza completa all'ormone della crescita Resistenza primaria al GH Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Resistenza primaria all'ormone della crescita Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome Laron syndrome Laron syndrome Laron syndrome Laron syndrome Aggiornamento 04/12/2012 48/270 PatTag (english label) Lbl Medico referente Telefono e-mail Laron syndrome with immunodeficiency Sindrome di Laron associata immunodeficienza Sindrome Laron-simile Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome with immunodeficiency Marco Cappa (06) 6859-3075/2963 [email protected] Laron syndrome with immunodeficiency Statura bassa da deficit di STAT5b Marco Cappa (06) 6859-3075/2963 [email protected] Larsen syndrome Sindrome di Larsen Marco Cappa (06) 6859-3075/2963 [email protected] Larsen-like osseous dysplasia - short stature Larsen-like osseous dysplasia - short stature Larsen-like syndrome, B3GAT3 type Displasia ossea Larsen-simile - nanismo Marco Cappa (06) 6859-3075/2963 [email protected] Nanismo - lassità legamentosa - ritardo di crescita Larsen-like syndrome, B3GAT3 type Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Late-onset isolated ACTH deficiency Deficit isolato di ACTH a esordio tardivo Marco Cappa (06) 6859-3075/2963 [email protected] Laurence-Moon syndrome Sindrome di Laurence-Moon Marco Cappa (06) 6859-3075/2963 [email protected] Leprechaunism Leprecaunismo Marco Cappa (06) 6859-3075/2963 [email protected] Leprechaunism Sindrome di Donohue Marco Cappa (06) 6859-3075/2963 [email protected] Leydig cell hypoplasia Ipoplasia delle cellule di Leydig Marco Cappa (06) 6859-3075/2963 [email protected] Leydig cell hypoplasia Pseudoermafroditismo maschile da difetto di LH Resistenza a LH da inattivazione del recettore LH Resistenza a LH da inattivazione completa del recettore LH Resistenza a LH da inattivazione parziale del recettore LH Sindrome di Liddle Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Leydig cell hypoplasia LH resistance due to complete LH receptor inactivation LH resistance due to partial LH receptor inactivation Liddle syndrome Liddle syndrome Pseudoiperaldosteronismo, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy due to peptidic growth factors deficiency Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipodistrofia da deficit dei fattori di crescita peptidici Deficit combinato di insulina, fattore di crescita epidermico (EGF), fattore 1 di crescita insulino-simile (IGF1) Sindrome Werner-simile da deficit combinato di fattore di crescita Sindrome di Hoepffner-Dreyer-Reimers Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Oloprosencefalia lobare Marco Cappa (06) 6859-3075/2963 [email protected] Lipodistrofie localizzate Marco Cappa (06) 6859-3075/2963 [email protected] Male hypergonadotropic hypogonadism - Ipogonadismo ipergonadotropo maschile intellectual deficit - skeletal anomalies ritardo mentale - anomalie scheletriche Marco Cappa (06) 6859-3075/2963 [email protected] Male hypergonadotropic hypogonadism - Sindrome di Sohval-Soffer intellectual deficit - skeletal anomalies Marco Cappa (06) 6859-3075/2963 [email protected] Male hypergonadotropic hypogonadism - Ipogonadismo ipergonadotropo maschile intellectual deficit - skeletal anomalies deficit cognitivo - anomalie scheletriche Marco Cappa (06) 6859-3075/2963 [email protected] Male infertility associated with largeheaded multiflagellar polyploid spermatozoa Male infertility with impaired virilisation due to a testicular disorder associated with a chronic illness Male infertility with impaired virilisation due to a testicular disorder associated with a hepatic disease Male infertility with impaired virilisation due to a testicular disorder associated with an immune disorder Male infertility with impaired virilisation due to a testicular disorder associated with renal failure Male infertility with impaired virilisation due to a testicular disorder associated with thyrotoxicosis Male infertility with impaired virilisation due to a viral orchitis Male infertility with impaired virilisation due to an acquired testicular defect associated with a granulomatous disease Sterilità maschile associata a spermatozoi poliploidi multiflagellati a testa grande Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Male infertility with impaired virilisation due to an acquired testicular defect associated with an environmental toxin Sterilità maschile con difetti della virilizzazione da difetto testicolare acquisito associato a una tossina ambientale Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a autoimmunità Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy due to peptidic growth factors deficiency Lobar holoprosencephaly Localized lipodystrophy Male infertility with impaired virilisation due to an acquired testicular defect associated with autoimmunity Aggiornamento 04/12/2012 Sterilità maschile con virilizzazione anomala da disturbo testicolare associato una malattia cronica Sterilità maschile con virilizzazione anomala da disturbo testicolare associato malattia epatica Sterilità maschile con virilizzazione anomala da disturbo testicolare associato un disturbo autoimmune Sterilità maschile con virilizzazione anomala da disturbo testicolare associato insufficinaza renale Sterilità maschile con virilizzazione anomala da disturbo testicolare associato tireotossicosi Sterilità maschile associata a difetti della virilizzazione da orchite virale Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a malattia granulomatosa a a a a a 49/270 PatTag (english label) Lbl Male infertility with impaired virilisation due to an acquired testicular defect associated with trauma Male infertility with impaired virilisation due to an acquired testicular defect drugrelated Male infertility with impaired virilisation due to an hypothalamic and pituitary disorder associated with hyperprolactinemia Male infertility with impaired virilization Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a traumi Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a farmaci Sterilità maschile con virilizzazione anomala da difetti ipofisari e ipotalamici associati a iperprolattinemia Male infertility with impaired virilization due to a testicular disorder Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease Male infertility with impaired virilization due to an acquired testicular defect Male infertility with impaired virilization due to an hypothalamic or pituitary disorder Male infertility with impaired virilization due to developmental and structural testicular defect Male infertility with normal virilisation due to a developmental or structural testicular defect associated with varicocele Male infertility with normal virilisation due to acquired testicular defect associated with autoimmunity Male infertility with normal virilisation due to acquired testicular defect associated with drug Male infertility with normal virilisation due to acquired testicular defect associated with environmental toxin Male infertility with normal virilisation due to acquired testicular defect associated with radiation Male infertility with normal virilisation due to androgen administration Medico referente Telefono e-mail Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sterilità maschile con virilizzazione Marco Cappa anomala Sterilità maschile con virilizzazione Marco Cappa anomala da difetto testicolare Sterilità maschile con difetti della Marco Cappa virilizzazione da malattia testicolare associata a malattia neurologica Sterilità maschile con virilizzazione Marco Cappa anomala da disturbo testicolare associato a una malattia sistemica Sterilità maschile con virilizzazione Marco Cappa anomala da difetto testicolare acquisito Sterilità maschile con virilizzazione Marco Cappa anomala da difetti ipofisari o ipotalamici (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Sterilità maschile con virilizzazione anomala da difetto dello sviluppo e strutturale dei testicoli Sterilità maschile con virilizzazione normale da difetti dello sviluppo e strutturali dei testicoli con varicocele (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a autoimmunità Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a farmaci Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a una tossina ambientale Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a radiazioni Sterilità maschile con virilizzazione normale da somministrazione di androgeni Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sterilità maschile con virilizzazione normale da difetto strutturale o dello sviluppo dei testicoli con criptorchidismo Marco Cappa (06) 6859-3075/2963 [email protected] Sterilità maschile con virilizzazione normale da difetti testicolari associati a lesioni del midollo spinale Sterilità maschile con virilizzazione normale Male infertility with normal virilization Sterilità maschile con virilizzazione due to a hypothalamic or pituitary defect normale da difetti ipofisari o ipotalamici Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Male infertility with normal virilization due to a systemic disease Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] virilization Sterilità maschile con virilizzazione normale da difetto testicolare associato a una malattia sistemica Sterilità maschile con virilizzazione normale da difetti testicolari Sterilità maschile con virilizzazione normale da difetto testicolare acquisito Sterilità maschile con virilizzazione normale da difetto testicolare acquisito con infezione micoplasmatica Sterilità maschile con virilizzazione normale da difetti dello sviluppo e strutturali dei testicoli Sterilità maschile con virilizzazione normale da anomalie del trasporto dello sperma Infertilità maschile con virilizzazione normale da difetto meiotico Azoospermia da arresto della maturazione Marco Cappa (06) 6859-3075/2963 [email protected] virilization Azoospermia da difetto della meiosi Marco Cappa (06) 6859-3075/2963 [email protected] virilization Sterilità maschile con virilizzazione normale da arresto della maturazione Sindrome di Marshall-Smith Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Maturazione ossea accelerata - facies peculiare - ritardo di crescita Malattia dello sviluppo sessuale da androgeni 46,XX, dovuta a tumore surrenale e ovarico virilizzante Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Male infertility with normal virilisation due to developmental or structural testicular defect associated with cryptorchidism Male infertility with normal virilisation due to testicular defect associated with spinal cord injury Male infertility with normal virilization Male infertility with normal virilization due to a testicular defect Male infertility with normal virilization due to acquired testicular defect Male infertility with normal virilization due to acquired testicular defect associated with mycoplasma infection Male infertility with normal virilization due to developmental or structural testicular defect Male infertility with normal virilization due to impaired sperm transport Male infertility with normal due to meiosis defect Male infertility with normal due to meiosis defect Male infertility with normal due to meiosis defect Male infertility with normal due to meiosis defect Marshall-Smith syndrome virilization Marshall-Smith syndrome Maternal androgen-induced 46,XX disorders of sex development due to a virilizing maternal ovarian or adrenal tumor Maternally inherited diabetes and deafness Maternally inherited diabetes and deafness Aggiornamento 04/12/2012 Diabete-sordità a trasmissione materna Marco Cappa (06) 6859-3075/2963 [email protected] Diabete mitocondriale Marco Cappa (06) 6859-3075/2963 [email protected] 50/270 PatTag (english label) Lbl Maternally inherited diabetes and deafness Maternally inherited diabetes and deafness Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser syndrome McCune-Albright syndrome MIDD MELAS Sindrome di McCune-Albright Marco Cappa (06) 6859-3075/2963 [email protected] McCune-Albright syndrome Pubertà femminile precoce indipendente dalle gonadotropine Deficit metastatico degli ormoni ipofisari Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Metastatic pituitary hormone deficiency Medico referente Telefono e-mail Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Mayer-Rokitansky-KüsterHauser Sindrome MRKH Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Rokitansky Marco Cappa (06) 6859-3075/2963 [email protected] Methylcobalamin deficiency type cbl E Deficit di metil-cobalamina, tipo cbl E Marco Cappa (06) 6859-3075/2963 [email protected] Methylcobalamin deficiency type cbl E Deficit di metil-cobalamina (cbl E) Marco Cappa (06) 6859-3075/2963 [email protected] Methylcobalamin deficiency type cbl E Omocistinuria da deficit di metilazione, tipo Marco Cappa cbl E Deficit di metil-cobalamina, tipo cbl G Marco Cappa (06) 6859-3075/2963 [email protected] Methylcobalamin deficiency type cbl G (06) 6859-3075/2963 [email protected] Methylcobalamin deficiency type cbl G Deficit di metil-cobalamina (cbl G) Marco Cappa (06) 6859-3075/2963 [email protected] Methylcobalamin deficiency type cbl G Omocistinuria da difetto di metilazione, tipo cbl G Methylmalonic acidemia Marco Cappa (06) 6859-3075/2963 [email protected] Methylmalonic acidemia Marco Cappa (06) 6859-3075/2963 [email protected] Microcephalic - primordial dwarfism, Toriello type Microform holoprosencephaly Nanismo osteodisplasico primitivo, tipo Toriello Microform holoprosencephaly Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly Mikati-Najjar-Sahli syndrome Oloprosencefalia, variante interemisferica della linea mediana Sintelencefalia Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Variante interemisferica mediana dell'oloprosencefalia Sindrome di Mikati-Najjar-Sahli Marco Cappa (06) 6859-3075/2963 [email protected] Mikati-Najjar-Sahli syndrome Möbius syndrome - axonal neuropathy hypogonadotropic hypogonadism Möbius syndrome - axonal neuropathy hypogonadotropic hypogonadism Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa Microcefalia - ipogonadismo ipergonadotropico - bassa statura Sindrome di Moebius - neuropatia assonale Marco Cappa - ipogonadismo ipogonadotropo (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Moebius (06) 6859-3075/2963 [email protected] Marco Cappa MODY syndrome Sindrome MODY Marco Cappa (06) 6859-3075/2963 [email protected] MODY syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Morgagni-Stewart-Morel syndrome Diabete giovanile con esordio nella maturità Sindrome di Morgagni-Stewart-Morel Marco Cappa (06) 6859-3075/2963 [email protected] Morgagni-Stewart-Morel syndrome Iperostosi frontale interna Marco Cappa (06) 6859-3075/2963 [email protected] Morse-Rawnsley-Sargent syndrome Sindrome di Morse-Rawnsley-Sargent Marco Cappa (06) 6859-3075/2963 [email protected] Moyamoya disease - short stature - facial Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic dysmorphism - hypergonadotropic hypogonadism hypogonadism Pseudoipertrofia muscolare - ipotiroidismo Muscular pseudohypertrophy hypothyroidism Sindrome di Hoffman Muscular pseudohypertrophy hypothyroidism Sindrome di Kocher-Debre-Semelaigne Muscular pseudohypertrophy hypothyroidism Myopathy and diabetes mellitus Miopatia e diabete mellito Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Nelson syndrome Sindrome di Nelson Marco Cappa (06) 6859-3075/2963 [email protected] Neonatal adrenoleukodystrophy Adrenoleucodistrofia neonatale Marco Cappa (06) 6859-3075/2963 [email protected] Neonatal adrenoleukodystrophy Insufficienza surrenalica primaria Marco Cappa (06) 6859-3075/2963 [email protected] Neonatal diabetes - congenital hypothyroidism - congenital glaucoma hepatic fibrosis - polycystic kidneys Neonatal diabetes mellitus Diabete neonatale - ipotiroidismo congenito - glaucoma congenito - fibrosi epatica - rene policistico Diabete mellito neonatale Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Neonatal diabetes mellitus NDM Marco Cappa (06) 6859-3075/2963 [email protected] Neonatal severe primary hyperparathyroidism Nephrogenic diabetes insipidus Iperparatiroidismo primitivo neonatale Marco Cappa (06) 6859-3075/2963 [email protected] Diabete insipido nefrogeno Marco Cappa (06) 6859-3075/2963 [email protected] Nephrogenic diabetes insipidus intracranial calcification Nephrogenic diabetes insipidus intracranial calcification Nephrogenic syndrome of inappropriate antidiuresis Diabete insipido nefrogeno - calcificazione intracranica Sindrome di Schofer-Beetz-Bohl Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome nefrogenica da antidiuresi non appropriata (NSIAD) Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 51/270 PatTag (english label) Lbl Nestor-Guillermo progeria syndrome Nestor-Guillermo progeria syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Neuroectodermal-endocrine syndrome Sindrome neuroectodermica endocrina Marco Cappa (06) 6859-3075/2963 [email protected] Neuroectodermal-endocrine syndrome Sindrome di Oerter-Friedman-Anderson Marco Cappa (06) 6859-3075/2963 [email protected] Neuroendocrine cell hyperplasia of infancy Neurosensory deafness - pituitary dwarfism Neurosensory deafness - pituitary dwarfism Neurosensory deafness - pituitary dwarfism Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations Nonacquired combined pituitary hormone deficiency Nonacquired combined pituitary hormone deficiency with spine abnormalities Iperplasia infantile delle cellule neuroendocrine Sordità neurosensoriale - nanismo ipofisario Perdita dell'udito neurosensoriale nanismo ipofisario Sindrome di Winkelman-Bethge-Pfeiffer Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations Deficit combinato non acquisito dell'ormone ipofisario Deficit combinato non acquisito dell'ormone ipofisario con anomalie della colonna vertebrale Diabete insipido centrale isolato non acquisito Deficit isolato dell'ormone della crescita non acquisito Deficit congenito dell'ormone della crescita isolato Deficiti congenito di GH isolato Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Non-acquired isolated central diabetes insipidus Nonacquired isolated growth hormone deficiency Nonacquired isolated growth hormone deficiency Nonacquired isolated growth hormone deficiency IGHD congenito Nonacquired isolated growth hormone deficiency Nonacquired pituitary hormone deficiency Deficit non acquisito degli ormoni pituitari Non-acquired premature ovarian failure Medico referente Insufficienza ovarica precoce non acquisita Marco Cappa Telefono e-mail (06) 6859-3075/2963 [email protected] Nonclassic congenital adrenal hyperplasia Iperplasia surrenalica congenita da deficit due to 21-hydroxylase deficiency di 21-idrossilasi, forma non classica Marco Cappa (06) 6859-3075/2963 [email protected] Non-hypogonadotropic hypogonadism Non-hypogonadotropic hypogonadism Marco Cappa (06) 6859-3075/2963 [email protected] Non-rare endocrinologic disease Non-rare endocrinologic disease Marco Cappa (06) 6859-3075/2963 [email protected] Non-rare infertility disease Non-rare infertility disease Marco Cappa (06) 6859-3075/2963 [email protected] Non-secreting pituitary adenoma Adenoma ipofisario non secernente Marco Cappa (06) 6859-3075/2963 [email protected] Nonsyndromic obesity Obesità umana monogenica da anomalia del percorso leptina-melanocortina Marco Cappa (06) 6859-3075/2963 [email protected] Normosmic congenital hypogonadotropic hypogonadism Normosmic congenital hypogonadotropic hypogonadism Normosmic congenital hypogonadotropic hypogonadism Obesity due MC3R deficiency Ipogonadismo ipogonadotropo congenito senza anosmia Insufficienza gonadotropica Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Insufficienza gonadotropica isolata congenita Obesità da deficit di MC3R Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin-4 receptor deficiency Obesity due to melanocortin-4 receptor deficiency Obesity due to prohormone convertase-I deficiency Obesity due to prohormone convertase-I deficiency Obesity due to pro-opiomelanocortin deficiency Obesity due to pro-opiomelanocortin deficiency Obesity, hyperphagia, and severe developmental delay due toTrkB gene deficiency Other rare diabetes mellitus Obesità da deficit congenito di leptina Marco Cappa (06) 6859-3075/2963 [email protected] Other rare diabetes mellitus Marco Cappa (06) 6859-3075/2963 [email protected] Ovarian hyperstimulation syndrome Sindrome da iperstimolazione ovarica Marco Cappa (06) 6859-3075/2963 [email protected] Ovarian hyperstimulation syndrome OHSS Marco Cappa (06) 6859-3075/2963 [email protected] Ovotesticular disorder of sex development Pancreatic adenoma Ermafrodistismo vero Marco Cappa (06) 6859-3075/2963 [email protected] Adenoma pancreatico Marco Cappa (06) 6859-3075/2963 [email protected] Pancreatic beta cell agenesis with neonatal diabetes mellitus Pancreatic hypoplasia - diabetes - heart disease Pancreatic hypoplasia - diabetes - heart disease Agenesia delle cellule beta pancreatiche con diabete neonatale Ipoplasia pancreatica - diabete cardiopatia Sindrome di Yorifuji-Okuno Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 Obesity due to congenital leptin resistance Marco Cappa (06) 6859-3075/2963 [email protected] Obesità da deficit del recettore della leptina Obesità da deficit del recettore della melanocortina-4 Deficit di MC4R Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Obesità da deficit di pro-ormone convertasi Marco Cappa 1 Deficit di PCI Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Obesità da deficit di pro-opiomelanocortina Marco Cappa (06) 6859-3075/2963 [email protected] Deficit di POMC Marco Cappa (06) 6859-3075/2963 [email protected] Obesità, iperfagia e ritardo dello sviluppo da deficit del gene TrkB Marco Cappa (06) 6859-3075/2963 [email protected] 52/270 PatTag (english label) Lbl Medico referente Telefono e-mail Panhypophysitis Panipofisite Marco Cappa (06) 6859-3075/2963 [email protected] Panhypophysitis Panipofisite infundibolare Marco Cappa (06) 6859-3075/2963 [email protected] Panhypopituitarism Panipopituitarismo Marco Cappa (06) 6859-3075/2963 [email protected] Panniculitis and localized lipodystrophy Pannicolite e lipodistrofia localizzata Marco Cappa (06) 6859-3075/2963 [email protected] Partial androgen insensitivity syndrome Sindrome da insensibilità parziale agli androgeni PAIS Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome da resistenza parziale agli androgeni Ipotiroidismo periferico Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Partial androgen insensitivity syndrome Partial androgen insensitivity syndrome Peripheral hypothyroidism Peripheral precocious puberty Peripheral precocious puberty Marco Cappa (06) 6859-3075/2963 [email protected] Peripheral resistance to thyroid hormones Permanent congenital hypothyroidism Resistenza periferica agli ormoni tiroidei Marco Cappa (06) 6859-3075/2963 [email protected] Ipotiroidismo congenito permanente Marco Cappa (06) 6859-3075/2963 [email protected] Permanent neonatal diabetes mellitus Diabete mellito neonatale permanente (PNDM) Diabete mellito neonatale permanente agenesia pancreatica e cerebellare Agenesia pancreatica e cerebellare Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Persistent Mullerian duct syndrome Sindrome da persistenza dei dotti Mülleriani Derivati Mülleriani persistenti Marco Cappa (06) 6859-3075/2963 [email protected] Persistent Mullerian duct syndrome PMDS Marco Cappa (06) 6859-3075/2963 [email protected] Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome Ipertricosi pigmentata associata a sindrome da diabete mellito insulinodipendente PHID Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Pituicytoma Pituicitoma Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary adenoma Adenoma ipofisario Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary apoplexy Apoplessia ipofisaria Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary deficiency Insufficienza ipofisaria Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary deficiency due to empty sella turcica syndrome Pituitary deficiency due to Rathke's pouch cysts Pituitary deficiency secondary to an anevrysm Pituitary deficiency secondary to meningeal hemorrhage Pituitary dermoid and epidermoid cysts Deficit ipofisario associato alla sindrome della sella turcica vuota Deficit ipofisario da cisti della tasca di Rathke Deficit ipofisario secondario a aneurisma Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit ipofisario secondario a emorragia meningea Cisti epidermoidi e dermoidi ipofisarie Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary hormone deficiency from meningeal origin Pituitary hormone deficiency from tumoral origin Pituitary hormone deficiency secondary to a granulomatous disease Deficit degli ormoni pituitari da malattia delle meningi Deficit degli ormoni pituitari tumorale Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Deficit degli ormoni pituitari secondaria a malattia granulomatosa Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary hormone deficiency secondary to storage disease Pituitary hormone defiency from vascular origin Pituitary stalk interruption syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary stalk interruption syndrome Deficit degli ormoni pituitari secondaria a malattia da accumulo Deficit degli ormoni pituitari di origine vascolare Sindrome da interruzione del peduncolo ipofisario Neuroipofisi ectopica Marco Cappa (06) 6859-3075/2963 [email protected] Pituitary stalk interruption syndrome PSIS Marco Cappa (06) 6859-3075/2963 [email protected] Polyendocrinopathy Poliendocrinopatia Marco Cappa (06) 6859-3075/2963 [email protected] Post-surgical hypopituitarism Ipopituitarismo post-chirurgico Marco Cappa (06) 6859-3075/2963 [email protected] Post-traumatic diabetes insipidus Diabete insipido post-traumatico Marco Cappa (06) 6859-3075/2963 [email protected] Post-traumatic hypopituitarism Ipopituitarismo post-traumatico Marco Cappa (06) 6859-3075/2963 [email protected] Precocious puberty Pubertà precoce Marco Cappa (06) 6859-3075/2963 [email protected] Permanent neonatal diabetes mellitus pancreatic and cerebellar agenesis Permanent neonatal diabetes mellitus pancreatic and cerebellar agenesis Persistent Mullerian duct syndrome Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome Premature aging Invecchiamento precoce Marco Cappa (06) 6859-3075/2963 [email protected] Primary adrenal insufficiency Insufficienza surrenale primaria Marco Cappa (06) 6859-3075/2963 [email protected] Primary congenital hypothyroidism Ipotiroidismo primitivo congenito Marco Cappa (06) 6859-3075/2963 [email protected] Primary congenital hypothyroidism without thyroid developmental anomaly Ipotiroidismo congenito primitivo senza anomalia dello sviluppo della tiroide Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 53/270 PatTag (english label) Lbl Primary hypergonadotropic hypogonadism - partial alopecia Primary hypergonadotropic hypogonadism - partial alopecia Primary hypophysitis Medico referente Telefono e-mail Ipogonadismo primitivo - alopecia parziale Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Al Awadi-Farag-Teebi Marco Cappa (06) 6859-3075/2963 [email protected] Ipofisite primitiva Marco Cappa (06) 6859-3075/2963 [email protected] Primary hypophysitis Ipofisite autoimmune Marco Cappa (06) 6859-3075/2963 [email protected] Primary hypophysitis Ipofisite granulomatosa Marco Cappa (06) 6859-3075/2963 [email protected] Primary hypophysitis Ipofisite linfocitica Marco Cappa (06) 6859-3075/2963 [email protected] Primary hypophysitis Ipofisite necrotizzante Marco Cappa (06) 6859-3075/2963 [email protected] Primary hypophysitis Ipofisite xantogranulomatosa Marco Cappa (06) 6859-3075/2963 [email protected] Primary hypophysitis Ipofisite xantomatosa Marco Cappa (06) 6859-3075/2963 [email protected] Primary lipodystrophy Lipodistrofie primitive Marco Cappa (06) 6859-3075/2963 [email protected] Primary parathyroids hyperplasia Iperplasia primitiva delle paratiroidi Marco Cappa (06) 6859-3075/2963 [email protected] Primary parathyroids hyperplasia Iperplasia ereditaria delle paratiroidi Marco Cappa (06) 6859-3075/2963 [email protected] Primary parathyroids hyperplasia Iperplasia familiare delle paratiroidi Marco Cappa (06) 6859-3075/2963 [email protected] Primary pigmented nodular adrenocortical disease Primary unilateral adrenal hyperplasia Malattia nodulare pigmentata primitiva della corteccia surrenale Iperplasia surrenalica unilaterale primitiva Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Primary unilateral adrenal hyperplasia PUAH Marco Cappa (06) 6859-3075/2963 [email protected] Prolactinoma Prolattinoma Marco Cappa (06) 6859-3075/2963 [email protected] Prolactinoma Adenoma ipofisario lattotropo Marco Cappa (06) 6859-3075/2963 [email protected] Prolactinoma Adenoma lattotropo Marco Cappa (06) 6859-3075/2963 [email protected] Protease inhibitor anomaly Anomalia degli inibitori delle proteasi Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohyperaldosteronism type 2 Pseudoiperaldosteronismo, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohyperaldosteronism type 2 Ipertensione a esordio precoce aggravata Marco Cappa dalla gravidanza Ipertensione da mutazioni con guadagno di Marco Cappa funzione nel recettore dei mineralcorticoidi (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Pseudoipoaldosteronismo, tipo 1 (06) 6859-3075/2963 [email protected] Pseudohyperaldosteronism type 2 Pseudohypoaldosteronism type 1 Marco Cappa Pseudohypoaldosteronism type 1 PHA, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2 Pseudoipoaldosteronismo, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2 Iperkaliemia ipertensiva Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2 Iperkaliemia-ipertensione, tipo Gordon Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2 Sindrome di Gordon Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2A Pseudoipoaldosteronismo, tipo 2A Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2B Pseudoipoaldosteronismo, tipo 2B Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoaldosteronism type 2C Pseudoipoaldosteronismo, tipo 2C Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoparathyroidism Pseudoipoparatiroidismo Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoparathyroidism type 1A Pseudoipoparatiroidismo, tipo 1A Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoparathyroidism type 1A Osteodistrofia ereditaria di Albright - PHP 1A Pseudoipoparatiroidismo, tipo 1B Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoparathyroidism type 1B Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoparathyroidism type 1C Pseudoipoparatiroidismo, tipo 1C Marco Cappa (06) 6859-3075/2963 [email protected] Pseudohypoparathyroidism type 2 Pseudoipoparatiroidismo, tipo 2 Marco Cappa (06) 6859-3075/2963 [email protected] Pseudopseudohypoparathyroidism Pseudopseudoipoparatiroidismo Marco Cappa (06) 6859-3075/2963 [email protected] Rabson-Mendenhall syndrome Sindrome di Rabson-Mendenhall Marco Cappa (06) 6859-3075/2963 [email protected] Radiation-induced hypopituitarism Ipopituitarismo indotto da radiazioni Marco Cappa (06) 6859-3075/2963 [email protected] Rare adrenal disease Malattia surrenale rara Marco Cappa (06) 6859-3075/2963 [email protected] Rare diabetes mellitus Diabete mellito raro Marco Cappa (06) 6859-3075/2963 [email protected] Rare endocrine disease Malattia endocrina rara Marco Cappa (06) 6859-3075/2963 [email protected] Rare endocrine growth disease Malattia rara della crescita endocrina Marco Cappa (06) 6859-3075/2963 [email protected] Rare genetic adrenal disease Rare genetic adrenal disease Marco Cappa (06) 6859-3075/2963 [email protected] Rare genetic diabetes mellitus Rare genetic diabetes mellitus Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 54/270 PatTag (english label) Lbl Medico referente Telefono e-mail Rare genetic endocrine disease Malattia endocrina genetica Marco Cappa (06) 6859-3075/2963 [email protected] Rare genetic hypothalamic or pituitary disease Rare genetic medullar disease Rare genetic hypothalamic or pituitary disease Rare genetic medullar disease Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Rare genetic parathyroid disease and phosphocalcic metabolism disorder Rare genetic thyroid disease Rare genetic parathyroid disease and phosphocalcic metabolism disorder Rare genetic thyroid disease Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Rare hyperparathyroidism Rare hyperparathyroidism Marco Cappa (06) 6859-3075/2963 [email protected] Rare hyperthyroidism Rare hyperthyroidism Marco Cappa (06) 6859-3075/2963 [email protected] Rare hypoaldosteronism Rare hypoaldosteronism Marco Cappa (06) 6859-3075/2963 [email protected] Rare hypoparathyroidism Rare hypoparathyroidism Marco Cappa (06) 6859-3075/2963 [email protected] Rare hypothalamic or pituitary disease Rare hypothalamic or pituitary disease Marco Cappa (06) 6859-3075/2963 [email protected] Rare hypothyroidism Rare hypothyroidism Marco Cappa (06) 6859-3075/2963 [email protected] Rare idiopathic male infertility Sterilità maschile idiopatica rara Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Rare insulin-independent diabetes mellitus Rare male infertility Rare insulin-independent diabetes mellitus Marco Cappa (06) 6859-3075/2963 [email protected] Sterilità maschile rara Marco Cappa (06) 6859-3075/2963 [email protected] Rare non surgically correctable form of primary aldosteronism Rare parathyroid diseases and phosphocalcic metabolism disorder Rare parathyroid tumor Iperaldosteronismo primitivo raro non corregibile chirugicamente Malattia del metabolismo fosfocalcico Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Tumore delle paratiroidi Marco Cappa (06) 6859-3075/2963 [email protected] Rare pediatric adrenal disease Malattia surrenale pediatrica rara Marco Cappa (06) 6859-3075/2963 [email protected] Rare primary hyperaldosteronism Iperaldosteronismo primitivo raro Marco Cappa (06) 6859-3075/2963 [email protected] Rare insulin-dependent diabetes mellitus Rare insulin-dependent diabetes mellitus Rare primary hyperaldosteronism Aldosteronismo primitivo raro Marco Cappa (06) 6859-3075/2963 [email protected] Rare surgically correctable form of primary aldosteronism Rare thyroid disease Iperaldosteronismo primitivo raro corregibile chirurgicamente Malattia tiroidea rara Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Renal cysts and diabetes syndrome Sindrome da cisti renali e diabete Marco Cappa (06) 6859-3075/2963 [email protected] Renal cysts and diabetes syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Renal cysts and diabetes syndrome Cisti renali - diabete giovanile a esordio nella maturità Cisti renali - diabete giovanile con esordio nella maturità Diabete giovanile con esordio nella maturità, tipo 5 Disfunzione renale - diabete a esordio preoce Dsfunzione renale - diabete a esordio precoce MODY5 Marco Cappa (06) 6859-3075/2963 [email protected] Renal cysts and diabetes syndrome Sindrome RCAD Marco Cappa (06) 6859-3075/2963 [email protected] Renal cysts and diabetes syndrome Microdelezione 17q12 Marco Cappa (06) 6859-3075/2963 [email protected] Renal cysts and diabetes syndrome Renal cysts and diabetes syndrome Renal cysts and diabetes syndrome Renal cysts and diabetes syndrome Renal pseudohypoaldosteronism type 1 Pseudoipoaldosteronismo renale, tipo 1 Marco Cappa (06) 6859-3075/2963 [email protected] Renal pseudohypoaldosteronism type 1 Marco Cappa (06) 6859-3075/2963 [email protected] Renal pseudohypoaldosteronism type 1 Pseudoipoaldosteronismo autosomico dominante, tipo 1 PHA Marco Cappa (06) 6859-3075/2963 [email protected] Riedel thyroiditis Tiroidite di Riedel Marco Cappa (06) 6859-3075/2963 [email protected] Ruvalcaba syndrome Sindrome di Ruvalcaba Marco Cappa (06) 6859-3075/2963 [email protected] Sanjad-Sakati syndrome Sindrome di Sanjad-Sakati Marco Cappa (06) 6859-3075/2963 [email protected] Sanjad-Sakati syndrome (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Secondary central precocious puberty Ipoparatiroidismo - bassa statura - ritardo Marco Cappa mentale - convulsioni Ipoparatiroidismo - ritardo mentale Marco Cappa dismorfismi Pubertà precoce centrale secondaria Marco Cappa (06) 6859-3075/2963 [email protected] Secondary hypoparathyroidism due to impaired parathormon secretion Selective pituitary resistance to thyroid hormone Semilobar holoprosencephaly Hypoparathyroidism due to impaired parathormon secretion, secondary Resistenza ipofisaria selettiva agli ormoni tiroidei Oloprosencefalia semilobare Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Septo-optic dysplasia Displasia setto-ottica Marco Cappa (06) 6859-3075/2963 [email protected] Septo-optic dysplasia SOD Marco Cappa (06) 6859-3075/2963 [email protected] Septo-optic dysplasia Sindrome di De Morsier Marco Cappa (06) 6859-3075/2963 [email protected] Sanjad-Sakati syndrome Aggiornamento 04/12/2012 55/270 PatTag (english label) Lbl Septo-optic dysplasia Spettro della displasia setto-ottica Septooptic dysplasia - digital anomalies Displasia setto-ottica - anomalie delle dita Septooptic dysplasia - digital anomalies Medico referente Telefono e-mail Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Pagon-Stephan Marco Cappa (06) 6859-3075/2963 [email protected] Septopreoptic holoprosencephaly Septopreoptic holoprosencephaly Marco Cappa (06) 6859-3075/2963 [email protected] Short fifth metacarpals - insulin resistance Short stature due to growth hormone qualitative anomaly Short stature due to growth hormone qualitative anomaly Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature due to primary acid-labile subunit deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency Resistenza all'insulina - V metacarpo breve Marco Cappa (06) 6859-3075/2963 [email protected] Bassa statura da difetto quantitativo dell'ormone della crescita Sindrome di Kowarski Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Bassa statura da deficit isolato dell'ormone Marco Cappa della crescita associato a ipogammaglobulinemia legata all'X Bassa statura da deficit primitivo della Marco Cappa subunità acido-labile Bassa statura - età ossea ritardata da Marco Cappa deficit degli ormoni tiroidei (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Solitary median maxillary central incisor syndrome Somatostatinoma Microforma di oloprosencefalia (06) 6859-3075/2963 [email protected] Somatostatinoma Marco Cappa (06) 6859-3075/2963 [email protected] Somatotroph adenoma Somatotrofinoma Marco Cappa (06) 6859-3075/2963 [email protected] Sporadic pheochromocytoma Feocromocitoma sporadico Marco Cappa (06) 6859-3075/2963 [email protected] Sporadic pheochromocytoma/secreting paraganglioma Paraganglioma/feocromocitoma secernente Marco Cappa sporadico (06) 6859-3075/2963 [email protected] Sporadic secreting paraganglioma Paraganglioma secernente sporadico (06) 6859-3075/2963 [email protected] Marco Cappa Marco Cappa Stein-Leventhal syndrome Sindrome di Stein-Leventhal Marco Cappa (06) 6859-3075/2963 [email protected] Stein-Leventhal syndrome Malattia dell'ovaio policistico Marco Cappa (06) 6859-3075/2963 [email protected] Stein-Leventhal syndrome PCOS Marco Cappa (06) 6859-3075/2963 [email protected] Stimmler syndrome Sindrome di Stimmler Marco Cappa (06) 6859-3075/2963 [email protected] Syndrome with hypogonadotropic hypogonadism Syndrome with hypoparathyroidism Syndrome with hypogonadotropic hypogonadism Syndrome with hypoparathyroidism Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Syndromic gonadal dysgenesis Sindrome da disgenesia gonadica Marco Cappa (06) 6859-3075/2963 [email protected] Syndromic hypothyroidism Ipotiroidismo sindromico Marco Cappa (06) 6859-3075/2963 [email protected] Syndromic obesity Obesità sindromica Marco Cappa (06) 6859-3075/2963 [email protected] Testotoxicosis Marco Cappa (06) 6859-3075/2963 [email protected] Testotoxicosis Pubertà precoce limitata ai maschi, indipendente dalle gonadotropine Pubertà precoce limitata ai bambini Marco Cappa (06) 6859-3075/2963 [email protected] Testotoxicosis Pubertà precoce limitata ai maschi Marco Cappa (06) 6859-3075/2963 [email protected] Thyrocerebrorenal syndrome Sindrome tiro-cerebro-renale Marco Cappa (06) 6859-3075/2963 [email protected] Thyrocerebrorenal syndrome Sindrome di Cutler-Bass-Romshe Marco Cappa (06) 6859-3075/2963 [email protected] Thyroglossal duct cyst Cisti del tratto tireoglosso Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid carcinoma Carcinoma tiroideo Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid ectopia Ectopia tiroidea Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid hemiagenesis Emiagenesia tiroidea Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid hypoplasia Ipoplasia tiroidea Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid lymphoma Linfoma tiroideo Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid pyramidal lobe Lobo piramidale tiroideo Marco Cappa (06) 6859-3075/2963 [email protected] Thyroid tumor Tumore tiroideo Marco Cappa (06) 6859-3075/2963 [email protected] Thyrotroph adenoma Adenoma ipofisario tireotropo Marco Cappa (06) 6859-3075/2963 [email protected] Thyrotoxic periodic paralysis Paralisi periodica tireotossica Marco Cappa (06) 6859-3075/2963 [email protected] Thyrotroph adenoma Adenoma tireotropo Marco Cappa (06) 6859-3075/2963 [email protected] Transient congenital hypothyroidism Transient congenital hypothyroidism Marco Cappa (06) 6859-3075/2963 [email protected] Transient congenital hypothyroidism due Ipotiroidismo congenito transitorio di to maternal factor origine materna Transient congenital hypothyroidism due Ipotiroidismo congenito transitorio di to neonatal factor origine neonatale Transient neonatal diabetes mellitus Diabete mellito neonatale transitorio (TNDM) Transient pseudohypoaldosteronism Pseudoipoaldosteronismo transitorio Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Aggiornamento 04/12/2012 56/270 PatTag (english label) Lbl Medico referente Telefono e-mail Triple A syndrome Sindrome della tripla A Marco Cappa (06) 6859-3075/2963 [email protected] Triple A syndrome Sindrome acalasia-addisonismo-alacrimia Marco Cappa (06) 6859-3075/2963 [email protected] Triple A syndrome Sindrome di Allgrove Marco Cappa (06) 6859-3075/2963 [email protected] Triple A syndrome Insufficienza surrenalica primaria Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Habitus Prader-Willi - osteopenia camptodattilia Ritardo mentale - bassa statura contratture delle mani - anomalie genitali Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Urban-Rogers-Meyer syndrome Ritardo mentale Marco Cappa (06) 6859-3075/2963 [email protected] Vasquez-Hurst-Sotos syndrome Sindrome di Vasquez-Hurst-Sotos Marco Cappa (06) 6859-3075/2963 [email protected] Vasquez-Hurst-Sotos syndrome Ipogonadismo legato all'X - ginecomastia - Marco Cappa ritardo mentale Sindrome di Wilson-Turner Marco Cappa (06) 6859-3075/2963 [email protected] (06) 6859-3075/2963 [email protected] Unclassified disorder of sex development Sviluppo sessuale anomalo, forme non classificate Unclassified disorder of sex development Forme non classificate di sviluppo sessuale in females anomalo nelle femmine Unclassified disorder of sex development Sviluppo sessuale anomalo nei maschi, in males forme non classificate Urban-Rogers-Meyer syndrome Sindrome di Urban-Rogers-Meyer Urban-Rogers-Meyer syndrome Urban-Rogers-Meyer syndrome Wilson-Turner syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Wolcott-Rallison syndrome Diabete mellito a esordio precoce displasia epifisaria multipla WRS Marco Cappa (06) 6859-3075/2963 [email protected] Wolfram syndrome Sindrome di Wolfram Marco Cappa (06) 6859-3075/2963 [email protected] Wolfram syndrome Diabete mellito - diabete insipido - atrofia ottica - sordità Sindrome DIDMOAD Marco Cappa (06) 6859-3075/2963 [email protected] Wolfram syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Woodhouse-Sakati syndrome Sindrome di Woodhouse-Sakati Marco Cappa (06) 6859-3075/2963 [email protected] Woodhouse-Sakati syndrome Diabete - ipogonadismo - sordità - ritardo mentale Adrenoleucodistrofia legata all'X Marco Cappa (06) 6859-3075/2963 [email protected] X-linked adrenoleukodystrophy Marco Cappa (06) 6859-3075/2963 [email protected] X-linked adrenoleukodystrophy ALD Marco Cappa (06) 6859-3075/2963 [email protected] X-linked adrenoleukodystrophy ALD legata all'X Marco Cappa (06) 6859-3075/2963 [email protected] X-linked adrenoleukodystrophy X-ALD Marco Cappa (06) 6859-3075/2963 [email protected] X-linked adrenoleukodystrophy Insufficienza surrenalica primaria Marco Cappa (06) 6859-3075/2963 [email protected] X-linked hypophosphatemia Ipofosfatemia legata all'X Marco Cappa (06) 6859-3075/2963 [email protected] X-linked immune dysregulation polyendocrinopathy - enteropathy Immunodisregolazione - poliendocrinopatia Marco Cappa - enteropatia legata all'X (06) 6859-3075/2963 [email protected] X-linked intellectual deficit with isolated growth hormone deficiency X-linked intellectual deficit with isolated growth hormone deficiency X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia Young syndrome Ritardo mentale legato all'X - deficit isolato Marco Cappa dell'ormone della crescita MRGH Marco Cappa (06) 6859-3075/2963 [email protected] Sindrome di Young Marco Cappa (06) 6859-3075/2963 [email protected] Young syndrome Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Young-Simpson syndrome Azoospermia - infezioni polmonari sinusite Ipotiroidismo - dismorfismi - polidattilia postassiale - ritardo mentale Sindrome di Young-Simpson Marco Cappa (06) 6859-3075/2963 [email protected] Young-Simpson syndrome Ritardo mentale Marco Cappa (06) 6859-3075/2963 [email protected] Rare disease in physical medicine and rehabilitation Malattia rara nella fisioterapia e riabilitazione Enrico Castelli Acute interstitial pneumonia Acute interstitial pneumonia Acute lung injury Allergic bronchopulmonary aspergillosis Polmonite acuta interstiziale Sindrome di Hamman-Rich Lesione polmonare acuta Aspergillosi broncopolmonare allergica Renato Renato Renato Renato Allergic bronchopulmonary aspergillosis Malattia di Hinson-Pepsy Renato Cutrera Wilson-Turner syndrome Wolcott-Rallison syndrome Wolcott-Rallison syndrome Young-Simpson syndrome Aggiornamento 04/12/2012 Ritardo mentale - ginecomastia - obesità legata all'X Sindrome di Wolcott-Rallison Lissencefalia legata all'X anomali Lissencefalia legata all'X corpo calloso - anomalie Lissencefalia legata all'X genitale Sindrome XLAG (06) 6859-3075/2963 [email protected] con genitali Marco Cappa (06) 6859-3075/2963 [email protected] - agenesia del genitali con ambiguità Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Marco Cappa (06) 6859-3075/2963 [email protected] Cutrera Cutrera Cutrera Cutrera (06) 6859-3377 [email protected] (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] [email protected] (06) 6859-2020 [email protected] 57/270 PatTag (english label) Lbl Medico referente Telefono e-mail Alpha-1-antichymotrypsin deficiency Asbestos intoxication Asbestos intoxication Athabaskan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Blaichman syndrome Bronchiectasis - oligospermia Bronchiolitis obliterans with obstructive pulmonary disease Bronchiolitis obliterans with obstructive pulmonary disease Bronchogenic cyst Bronchopulmonary dysplasia Bronchopulmonary dysplasia Butyrylcholinesterase deficiency Chronic pneumonitis of infancy Chronic pneumonitis of infancy Chronic respiratory distress with surfactant metabolism deficiency Chronic thromboembolic pulmonary hypertension Churg-Strauss syndrome Churg-Strauss syndrome Churg-Strauss syndrome Churg-Strauss syndrome Communicating congenital bronchopulmonary-foregut malformation Deficit di alpha-1-antichimotripsina Intossicazioni da amianto Asbestosi Sindrome da disgenesia del tronco cerebrale, tipo Athabaskan ABSD Renato Renato Renato Renato (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] Sindrome del tronco cerebrale dei Navajo Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Sindrome di Blaichman Bronchiectasia oligospermia Bronchiolite obliterante con difetto ostruttivo della ventilazione Bronchiolite costrittiva Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Cisti broncogene Displasia broncopolmonare BPD Deficit di butiril-colinesterasi Polmonite cronica dell'infanzia CPI Distress respiratorio cronico con deficit del metabolismo del surfattante Ipertensione polmonare tromboembolica cronica Sindrome di Churg-Strauss Angioite allergica granulomatosa ANCA Orticaria solare Communicating congenital bronchopulmonary-foregut malformation Renato Renato Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Congenital alpha2 antiplasmin deficiency Deficit congenito di alfa-2-antiplasmina Renato Cutrera (06) 6859-2020 [email protected] Congenital alveolar capillary dysplasia Congenital alveolar capillary dysplasia Displasia alveolocapillare congenita Displasia alveolocapillare con difetto di allineamento dei vasi polmonari Displasia alveolocapillare con difetto di allineamento delle vene polmonari Fistola broncobiliare congenita Chilotorace congenito Enfisema lobare congenito Anomalia parziale del ritorno venoso polmonare, tipo congenito Adenomatosi polmonare Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Renato Renato Renato (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Congenital pulmonary airway malformation, type 0 Congenital pulmonary airway malformation, type 1 Congenital pulmonary airway malformation, type 2 Congenital pulmonary airway malformation, type 3 Congenital pulmonary airway malformation, type 4 Proteinosi alveolare polmonare congenita Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] PAP congenita Renato Cutrera (06) 6859-2020 [email protected] Congenital alveolar capillary dysplasia Congenital bronchobiliary fistula Congenital chylothorax Congenital lobar emphysema Congenital partial pulmonary venous return anomaly Congenital pulmonary airway malformation of the lung Congenital pulmonary airway malformation, type 0 Congenital pulmonary airway malformation, type 1 Congenital pulmonary airway malformation, type 2 Congenital pulmonary airway malformation, type 3 Congenital pulmonary airway malformation, type 4 Congenital pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis Congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia Cutrera Cutrera Cutrera Cutrera Linfangectasia polmonare Renato Cutrera (06) 6859-2020 [email protected] Linfangectasie polmonari cistiche Renato Cutrera (06) 6859-2020 [email protected] Congenital pulmonary lymphangiectasia Linfangiomatosi polmonare Renato Cutrera (06) 6859-2020 [email protected] Congenital pulmonary sequestration Congenital pulmonary venous return anomaly Congenital pulmonary venous return anomaly Congenital total pulmonary venous return anomaly Cryptogenic organizing pneumonia Cryptogenic organizing pneumonia Sequestrazione polmonare Ritorno venoso polmonare anomalo, tipo congenito Connessione venosa polmonare anomala, tipo congenito Ritorno venoso polmonare anomalo totale, tipo congenito Polmonite criptogenica organizzata Bronchiolite obliterante - polmonite organizzata Amartomatosi cistica polmone-rene Sindrome di Graham-Boyle-Troxell Polmonite desquamativa interstiziale Emorragia alveolare diffusa Panbronchiolite diffusa Pneumopatia interstiziale da farmaci o esposizione a radiazioni Ipertensione arteriosa polmonare indotta dalle tossine o dai farmaci PAH indotta dalle tossine o dai farmaci Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] (06) 6859-2020 [email protected] Cystic hamartoma of lung and kidney Cystic hamartoma of lung and kidney Desquamative interstitial pneumonia Diffuse alveolar hemorrhage Diffuse panbronchiolitis Drug or radiation exposure-related interstitial lung disease Drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced pulmonary arterial hypertension Dursun syndrome Dursun syndrome Sindrome di Dursun Ipertensione arteriosa polmonare leucopenia - difetto del setto atriale Dursun syndrome Sindrome di Dursun Eisenmenger syndrome Malattia di Eisenmenger Exposure-related interstitial lung disease Pneumopatia interstiziale da fattori ambientali Aggiornamento 04/12/2012 Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] 58/270 PatTag (english label) Lbl Extralobar congenital pulmonary sequestration Familial primary pulmonary hypoplasia Familial spontaneous pneumothorax Farmer's lung disease Genetic interstitial lung disease Genetic interstitial lung disease Genetic respiratory malformation Genetic respiratory or mediastinal malformation Glaucoma - sleep apnea Graft rejection after lung transplantation Extralobar congenital pulmonary sequestration Ipoplasia polmonare primitiva familiare Pneumotorace spontaneo familiare Malattia del polmone del fattore Pneumopatia interstiziale genetica ILD genetica Genetic respiratory malformation Genetic respiratory or mediastinal malformation Sindrome glaucoma-apnea Rigetto del polmone trapiantato Haddad syndrome Haddad syndrome Sindrome di Haddad Ipoventilazione alveolare centrale congenita - malattia di Hirschsprung Malattia di Ondine-Hirschsprung Sindrome di Ondine-Hirschsprung Ipertensione arteriosa polmonare ereditabile FPAH Haddad syndrome Haddad syndrome Heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension House allergic alveolitis Hypersensitivity pneumonitis Hypersensitivity pneumonitis Hypohidrotic ectodermal dysplasia hypothyroidism - ciliary dyskinesia Hypohidrotic ectodermal dysplasia hypothyroidism - ciliary dyskinesia Idiopathic acute eosinophilic pneumonia Idiopathic and/or familial pulmonary arterial hypertension Idiopathic and/or familial pulmonary arterial hypertension Idiopathic bronchiectasis Idiopathic chronic eosinophilic pneumonia Idiopathic chronic eosinophilic pneumonia Idiopathic eosinophilic pneumonia Idiopathic interstitial pneumonia Idiopathic pulmonary alveolar proteinosis Aggiornamento 04/12/2012 Telefono e-mail Renato Cutrera (06) 6859-2020 [email protected] Renato Renato Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected]opbg.net [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Ipertensione arteriosa polmonare Renato Cutrera ereditaria Ipertensione arteriosa polmonare familiare Renato Cutrera (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Alveolite allergica domestica Alveolite allergica estrinseca Polmonite da ipersensibilità Displasia ectodermica ipoidrotica ipotiroidismo - discinesia ciliare Sindrome ANOTHER Renato Renato Renato Renato Renato Cutrera (06) 6859-2020 [email protected] Polmonite acuta idiopatica con eosinofili Renato Cutrera (06) 6859-2020 [email protected] Ipertensione arteriosa polmonare familiare Renato Cutrera e/o idiopatica PAH Renato Cutrera (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Bronchiectasia idiopatica Polmonite cronica idiopatica con eosinofili Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Sindrome di Carrington Renato Cutrera (06) 6859-2020 [email protected] Polmonite eosinofila idiopatica Polmonite interstiziale idiopatica Proteinosi alveolare polmonare idiopatica Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] Idiopathic pulmonary alveolar proteinosis PAP idiopatica Idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension Idiopathic pulmonary fibrosis Idiopathic pulmonary fibrosis Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis Infant acute respiratory distress syndrome Infant acute respiratory distress syndrome Infant acute respiratory distress syndrome Infant acute respiratory distress syndrome Infant acute respiratory distress syndrome Infantile apnea Infantile apnea Inhalation anthrax disease Inhalation anthrax disease Interstitial lung disease Interstitial lung disease Interstitial lung disease in childhood and adulthood Interstitial lung disease in childhood and adulthood Interstitial lung disease specific to adulthood Interstitial lung disease specific to adulthood Interstitial lung disease specific to childhood Interstitial lung disease specific to childhood Interstitial lung disease specific to infancy Interstitial lung disease specific to infancy Intralobar congenital pulmonary sequestration Jeune syndrome Jeune syndrome Medico referente Ipertensione arteriosa polmonare idiopatica IPAH Fibrosi polmonare idiopatica Renato Malattia interstiziale del polmone Renato Polmonite interstiziale usuale (UIP) Renato Emosiderosi polmonare idiopatica Renato Sindrome da distress respiratorio acuto del Renato bambino ARDS del bambino Renato Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera (06) 6859-2020 [email protected] Malattia della membrana ialina Renato Cutrera (06) 6859-2020 [email protected] Sindrome da distress respiratorio del bambino Sindrome da distress respiratorio del neonato Apnea infantile Apnea dell'infanzia (AOI) Malattia da inalazione di antrace Malattia respiratoria da antrace Pneumopatia interstiziale ILD Pneumopatia interstiziale dell'infanzia e dell'età adulta ILD del'infanzia e dell'età adulta Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Renato Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiale specifica dell'età adulta ILD specifica dell'età adulta Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale specifica dell'infanzia ILD specifica dell'infanzia Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale specifica dell'infanzia ILD specifica dell'infanzia Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Intralobar congenital pulmonary sequestration Sindrome di Jeune Distrofia toracica asfissiante del neonato Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] 59/270 PatTag (english label) Lbl Jeune syndrome Jeune syndrome Laryngo-tracheo-esophageal cleft pulmonary hypoplasia Lung agenesis - heart defect - thumb anomalies Lung agenesis - heart defect - thumb anomalies Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis Lymphangioleiomyomatosis Lymphangioleiomyomatosis Lymphoid interstitial pneumonia Matthew-Wood syndrome Matthew-Wood syndrome Matthew-Wood syndrome Matthew-Wood syndrome Mediastinal fibrosis Mediastinal fibrosis Mediastinal fibrosis Nonspecific interstitial pneumonia Nonspecific interstitial pneumonia Nonspecific interstitial pneumonia Distrofia toracica asfissiante di Jeune JATD Sindrome di Novak Agenesia polmonare - cardiopatia - difetti del pollice Sindrome di Mardini-Nyhan Fibrosi polmonare - immunodeficienza disgenesia gonadica Linfangioleiomiomatosi LAM Polmonite interstiziale linfoide Sindrome di Matthew-Wood Anoftalmia - ipoplasia polmonare MCOPS9 Microftalmia sindromica, tipo 9 Fibrosi mediastinica Mediastinite fibrosante Mediastinite sclerosante Polmonite interstiziale non specifica NSIP Polmonite interstiziale non specifica idiopatica Nonsyndromic respiratory or mediastinal Malformazione respiratoria o del malformation mediastino non sindromica Occupational allergic alveolitis Alveolite allergica professionale Ondine syndrome Sindrome di Ondine Ondine syndrome Ipoventilazione alveolare centrale congenita Primary ciliary dyskinesia Discinesia ciliare primitiva Primary ciliary dyskinesia Sindrome dell'immobilità ciliare Primary ciliary dyskinesia - retinitis Discinesia ciliare primitiva - retinite pigmentosa pigmentosa Sindrome da cilia immobili, tipo Primary ciliary dyskinesia, Kartagener type Kartagener Destrocardia - bronchiectasia - sinusite Primary ciliary dyskinesia, Kartagener type Discinesia ciliare primitiva, tipo Kartagener Primary ciliary dyskinesia, Kartagener type Sindrome di Kartagener Primary ciliary dyskinesia, Kartagener type Primary ciliary dyskinesia, Kartagener Sindrome di Siewert type Pneumopatia interstiziale primitiva Primary interstitial lung disease in childhood and adulthood dell'infanzia e dell'età adulta ILD primitiva dell'infanzia e dell'età adulta Primary interstitial lung disease in childhood and adulthood Pneumopatia interstiziale primitiva Primary interstitial lung disease in childhood and adulthood due to alveolar dell'infanzia e dell'età adulta da difetto structure disorder della struttura alveolare ILD primitiva dell'infanzia e dell'età adulta Primary interstitial lung disease in childhood and adulthood due to alveolar da anomalia della struttura alveolare structure disorder Pneumopatia interstiziale primitiva Primary interstitial lung disease in childhood and adulthood due to alveolar dell'infanzia e dell'età adulta da anomalia vascular disorder vascolare degli alveoli Primary interstitial lung disease in ILD primitiva dell'infanzia e dell'età adulta childhood and adulthood due to alveolar da anomalia vascolare degli alveoli vascular disorder Pneumopatia interstiziale primitiva Primary interstitial lung disease specific to adulthood specifica dell'età adulta ILD primitiva specifica dell'età adulta Primary interstitial lung disease specific to adulthood Primary interstitial lung disease specific Pneumopatia interstiziale primitiva to childhood specifica dell'infanzia ILD primitiva specifica dell'infanzia Primary interstitial lung disease specific to childhood Pneumopatia interstiziale primitiva Primary interstitial lung disease specific specifica dell'infanzia da anomalia della to childhood due to alveolar structure disorder struttura alveolare ILD primitiva specifica dell'infanzia da Primary interstitial lung disease specific anomalia della struttura alveolare to childhood due to alveolar structure disorder Primary interstitial lung disease specific Pneumopatia interstiziale primitiva to childhood due to alveolar vascular specifica dell'infanzia da anomalia disorder vascolare degli alveoli ILD primitiva specifica dell'infanzia da Primary interstitial lung disease specific anomalia vascolare degli alveoli to childhood due to alveolar vascular disorder Primary interstitial lung disease specific Pneumopatia interstiziale primitiva to childhood due to pulmonary surfactant specifica dell'infanzia da anomalie della protein anomalies proteina del surfattante polmonare Medico referente Telefono e-mail Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Renato Renato Renato Renato Renato Renato Renato Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Primary interstitial lung disease specific ILD primitiva specifica dell'infanzia da to childhood due to pulmonary surfactant anomalie della proteina del surfattante protein anomalies polmonare Renato Cutrera (06) 6859-2020 [email protected] Pulmonary Pulmonary Pulmonary Pulmonary Pulmonary associated Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] agenesis alveolar microlithiasis arterial hypertension arterial hypertension arterial hypertension with another disease Aggiornamento 04/12/2012 Agenesia polmonare Microlitiasi alveolare polmonare Ipertensione arteriosa polmonare PAH Ipertensione arteriosa polmonare associata ad altra malattia Cutrera Cutrera Cutrera Cutrera Cutrera 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 60/270 PatTag (english label) Lbl Pulmonary arterial hypertension associated with another disease Pulmonary arterial hypertension associated with another disease Pulmonary arterial hypertension associated with chronic hemolytic anemia PAH associata ad altra malattia Renato Cutrera (06) 6859-2020 [email protected] PAH secondaria Renato Cutrera (06) 6859-2020 [email protected] Ipertensione arteriosa polmonare associata Renato Cutrera ad anemia emolitica cronica (06) 6859-2020 [email protected] Pulmonary arterial hypertension PAH associata ad anemia emolitica cronica Renato Cutrera associated with chronic hemolytic anemia (06) 6859-2020 [email protected] Pulmonary arterial hypertension associated with congenital heart disease Ipertensione arteriosa polmonare associata Renato Cutrera a cardiopatia congenita (06) 6859-2020 [email protected] Pulmonary arterial hypertension associated with congenital heart disease PAH associata a cardiopatia congenita Renato Cutrera (06) 6859-2020 [email protected] Pulmonary arterial hypertension Ipertensione arteriosa polmonare associata Renato Cutrera associated with connective tissue disease a malattia del tessuto connettivo (06) 6859-2020 [email protected] Pulmonary arterial hypertension PAH associata a malattia del tessuto associated with connective tissue disease connettivo Renato Cutrera (06) 6859-2020 [email protected] Ipertensione arteriosa polmonare associata Renato Cutrera a infezione da HIV PAH associata a infezione da HIV Renato Cutrera (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Pulmonary arterial hypertension associated with HIV infection Pulmonary arterial hypertension associated with HIV infection Pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with schistosomiasis Pulmonary arterial hypertension associated with schistosomiasis Pulmonary arterial hypertension with unclear multifactorial mechanism Pulmonary arterial hypertension with unclear multifactorial mechanism Pulmonary capillary hemangiomatosis Pulmonary fibrosis - hepatic hyperplasia bone marrow hypoplasia Pulmonary hypertension owing to lung disease and/or hypoxia Pulmonary hypertension owing to lung disease and/or hypoxia Pulmonary hypertension owing to lung disease and/or hypoxia Pulmonary hypertension owing to lung disease and/or hypoxia Pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis Pulmonary nodular lymphoid hyperplasia Medico referente Telefono e-mail Ipertensione arteriosa polmonare associata Renato Cutrera a ipertensione portale Ipertensione portopolmonare Renato Cutrera (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] PAH associata a ipertensione portale Renato Cutrera (06) 6859-2020 [email protected] POPH Renato Cutrera (06) 6859-2020 [email protected] Ipertensione arteriosa polmonare associata Renato Cutrera a schistosomiasi PAH associata a schistosomiasi Renato Cutrera (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] [email protected] Ipertensione arteriosa polmonare con meccanismo multifattoriale non noto PH con meccanismo multifattoriale non noto Emangiomatosi capillare polmonare Fibrosi polmonare - iperplasia epatica ipoplasia del midollo osseo Ipertensione polmonare dovuta a pneumopatia e/o ipossia Ipertensione polmonare da pneumopatia e/o ipossia PH da penumopatia e/o ipossia Renato Cutrera (06) 6859-2020 Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] PH dovuta a penumopatia e/o ipossia Renato Cutrera (06) 6859-2020 [email protected] Glicogenosi interstiziale polmonare PIG Polmonite interstiziale cellulare infantile Iperplasia linfatica nodulare polmonare Renato Renato Renato Renato (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] Cutrera Cutrera Cutrera Cutrera Pulmonary nodular lymphoid hyperplasia Pseudolinfoma polmonare Renato Cutrera (06) 6859-2020 [email protected] Rare allergic respiratory disease Rare genetic respiratory disease Rare pulmonary disease Rare pulmonary hypertension Rare respiratory disease Recurrent respiratory papillomatosis Respiratory bronchiolitis - interstitial lung disease Respiratory bronchiolitis - interstitial lung disease Respiratory malformation Respiratory or mediastinal malformation Malattia da allergia respiratoria rara Malattia respiratoria genetica Malattia polmonare rara Ipertensione polmonare Malattia respiratoria rara Papillomatosi ricorrente respiratoria Bronchiolite respiratoria - pneumopatia interstiziale RB-ILD Renato Renato Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] Renato Renato Renato Renato Renato (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] Scimitar syndrome Respiratory malformation Malformazione del mediastino o dell'apparato respiratorio Malformazione respiratoria e toracica Sindrome della ''scimitarra'' Sindrome da ipogenesia polmonare Sindrome di Halasz Sindrome epibronchiale dell'arteria polmonare destra Sindrome venolobare polmonare congenita Secondary ciliary dyskinesia Secondary ciliary dyskinesia Secondary ciliary dyskinesia Secondary interstitial lung disease in childhood and adulthood Secondary interstitial lung disease in childhood and adulthood Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Discinesia ciliare secondaria Discinesia ciliare acquisita SCD Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta ILD secondaria dell'infanzia e dell'età adulta Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a malattia del tessuto connettivo ILD secondaria dell'infanzia e dell'età adulta associata a malattia del tessuto connettivo Respiratory or thoracic malformation Scimitar syndrome Scimitar syndrome Scimitar syndrome Scimitar syndrome Aggiornamento 04/12/2012 Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera Cutrera 6859-2020 6859-2020 6859-2020 6859-2020 6859-2020 Renato Cutrera (06) 6859-2020 [email protected] Renato Renato Renato Renato (06) (06) (06) (06) 6859-2020 6859-2020 6859-2020 6859-2020 [email protected] [email protected] [email protected] [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Cutrera Cutrera Cutrera Cutrera 61/270 PatTag (english label) Lbl Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Secondary interstitial lung disease specific to adulthood associated with a systemic disease Secondary interstitial lung disease specific to adulthood associated with a systemic disease Secondary interstitial lung disease specific to childhood associated with a connective tissue disease Secondary interstitial lung disease specific to childhood associated with a connective tissue disease Secondary interstitial lung disease specific to childhood associated with a granulomatous disease Secondary interstitial lung disease specific to childhood associated with a granulomatous disease Secondary interstitial lung disease specific to childhood associated with a metabolic disease Secondary interstitial lung disease specific to childhood associated with a metabolic disease Secondary interstitial lung disease specific to childhood associated with a systemic disease Secondary interstitial lung disease specific to childhood associated with a systemic disease Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Secondary pulmonary hemosiderosis Severe acute respiratory syndrome Syndromic respiratory or mediastinal malformation Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a malattia metabolica ILD secondaria dell'infanzia e dell'età adulta associata a malattia metabolica Anal fistula Anorectal malformation Anorectal malformation Anorectal malformation APC-related attenuated familial adenomatous polyposis APC-related attenuated familial adenomatous polyposis APC-related attenuated familial adenomatous polyposis APC-related attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis Barrett esophagus Barrett esophagus Barrett esophagus Cap polyposis Duplication of the esophagus Duplication of the esophagus Duplication of the esophagus Eosinophilic esophagitis Eosinophilic gastroenteritis Esophageal atresia Esophageal duplication cyst Familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis Familial adenomatous polyposis Aggiornamento 04/12/2012 Medico referente Telefono e-mail Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a malattia sistemica ILD secondaria dell'infanzia e dell'età adulta associata a malattia sistemica Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a vasculite sistemica ILD secondaria dell'infanzia e dell'età adulta associata a vasculite sistemica Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria specifica dell'età adulta associata a malattia sistemica ILD secondaria specifica dell'età adulta associata a malattia sistemica Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria Renato Cutrera specifica dell'infanzia associata a malattia del tessuto connettivo ILD secondaria specifica dell'infanzia Renato Cutrera associata a malattia del tessuto connettivo (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia granulomatosa ILD secondaria specifica dell'infanzia associata a malattia granulomatosa Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia metabolica ILD secondaria specifica dell'infanzia associata a malattia metabolica Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia sistemica ILD secondaria specifica dell'infanzia associata a malattia sistemica Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Pneumopatia interstiziale secondaria specifica dell'infanzia associata a vasculite sistemica ILD secondaria specifica dell'infanzia associata a vasculite sistemica Renato Cutrera (06) 6859-2020 [email protected] Renato Cutrera (06) 6859-2020 [email protected] Emosiderosi polmonare secondaria Severe acute respiratory syndrome Malformazione respiratoria o del mediastino sindromica Renato Cutrera Renato Cutrera Renato Cutrera (06) 6859-2020 (06) 6859-2020 (06) 6859-2020 [email protected] [email protected] [email protected] Fistola anale Malformazione anorettale Ano imperforato Atresia anorettale Poliposi adenomatosa familiare attenuata legata a APC AFAP legata a APC Luigi Luigi Luigi Luigi Luigi (06) (06) (06) (06) (06) 68592841 68592841 68592841 68592841 68592841 [email protected] [email protected] [email protected] [email protected] [email protected] (06) 68592841 [email protected] FAP attenuata legata a APC Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Luigi Dall'Oglio Luigi Dall'Oglio (06) 68592841 [email protected] Poliposi rettolica familiare attenuata legata Luigi Dall'Oglio a APC Poliposi adenomatosa familiare attenuata Luigi Dall'Oglio (06) 68592841 [email protected] (06) 68592841 [email protected] AFAP Luigi Dall'Oglio (06) 68592841 [email protected] FAP attenuata Luigi Dall'Oglio (06) 68592841 [email protected] Poliposi rettocolica familiare attenuata Luigi Dall'Oglio (06) 68592841 [email protected] Esofago di Barrett Displasia esofagea Metaplasia esofagea Poliposi a ''cappuccio'' Duplicazione dell'esofago Esofageo Esofago Esofagite eosinofila Gastroenterite eosinofila Atresia esofagea Cisti da duplicazione esofagea Poliposi adenomatosa familiare FAP Poliposi adenomatosa colorettale Poliposi familiare del colon APC Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] lu[email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 62/270 PatTag (english label) Familial adenomatous polyposis 5q22.2 microdeletion Familial adenomatous polyposis 5q22.2 microdeletion Familial adenomatous polyposis 5q22.2 microdeletion Familial adenomatous polyposis 5q22.2 microdeletion Familial adenomatous polyposis 5q22.2 microdeletion Familial adenomatous polyposis 5q22.2 microdeletion Gastroduodenal malformation Lbl due to Medico referente Telefono e-mail Poliposi adenomatosa familiare da microdelezione 5q22.2 FAP da monosomia 5q22.2 Luigi Dall'Oglio (06) 68592841 [email protected] Luigi Dall'Oglio (06) 68592841 [email protected] Poliposi adenomatosa colorettale da monosomia 5q22.2 Poliposi adenomatosa familiare da del(5)(q22.2) Poliposi adenomatosa familiare da monosomia 5q22.2 Poliposi rettocolica familiare da monosomia 5q22.2 Malformazione gastroduodenale congenita Luigi Dall'Oglio (06) 68592841 [email protected] Luigi Dall'Oglio (06) 68592841 [email protected] Luigi Dall'Oglio (06) 68592841 [email protected] Luigi Dall'Oglio (06) 68592841 [email protected] Luigi Dall'Oglio (06) 68592841 [email protected] Gastroschisi Laparoschisi Gastro-esophageal disease, genetic Malformazione anorettale alta Malattia di Hirschsprung Sindrome da poliposi iperplastica Anastomosi ileoanale con reservoir associata a incontinenza fecale Poliposi intestinale Poliposi gastrointestinale giovanile Poliposi intestinale giovanile Sindrome della poliposi giovanile (JPS) Poliposi infantile e giovanile Malattia di Menetrier Gastrite ipertrofica gigante familiare Sindrome di Turcot senza poliposi Malattia chirurgica addominale rara Malattia gastroesofagea rara Duplicazione rettale Atresia anorettale Sindrome dell'ulcera solitaria del retto Sindrome di Zollinger-Ellison Gastrinoma GRFoma Luigi Luigi Luigi Luigi Luigi Luigi Luigi Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio (06) (06) (06) (06) (06) (06) (06) 68592841 68592841 68592841 68592841 68592841 68592841 68592841 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Luigi Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio Dall'Oglio (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 68592841 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Acute cutaneous lupus erythematosus Lupus eritematoso cutaneo acuto Amyloidosis Amiloidosi Ankylosing spondylitis Spondiloartrite anchilosante Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti due to due to due to due to due to Gastroschisis Gastroschisis Genetic gastro-esophageal disease High anorectal malformation Hirschsprung disease Hyperplastic polyposis syndrome Ileal pouch anal anastomosis related faecal incontinence Intestinal polyposis Juvenile gastrointestinal polyposis Juvenile gastrointestinal polyposis Juvenile gastrointestinal polyposis Juvenile polyposis of infancy Menetrier's disease Menetrier's disease Nonpolyposis Turcot syndrome Rare abdominal surgical disease Rare gastro-esophageal disease Rectal duplication Rectal duplication Solitary rectal ulcer syndrome Zollinger-Ellison syndrome Zollinger-Ellison syndrome Zollinger-Ellison syndrome [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Fabrizio De Benedetti (06) 6859-2020 [email protected] Deficit dell'antagonista del recettore dell'interleuchina-1 Fabrizio De Benedetti (06) 6859-2020 [email protected] Sindrome autoinfiammatoria Fabrizio De Benedetti (06) 6859-2020 [email protected] Ankylosing spondylitis Sindrome di Bechterew Anti-neutrophil cytoplasmic antibodyassociated vasculitis Anti-neutrophil cytoplasmic antibodyassociated vasculitis Anti-neutrophil cytoplasmic antibodyassociated vasculitis Antisynthetase syndrome Vasculite associata agli anticorpi anticitoplasma nei neutrofili AAV Vasculite associata ad ANCA Sindrome da antisintetasi Aseptic osteitis Osteite asettica Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome with recurrent infections Autoimmune lymphoproliferative syndrome with recurrent infections Autoimmune lymphoproliferative syndrome-related disorder Autoimmune lymphoproliferative syndrome-related disorder Autoimmune necrotizing myopathy Sindrome linfoproliferativa autoimmune ALPS Deficit di FAS Sindrome di Canale-Smith Sindrome linfoproliferativa autoimmune con infezioni ricorrenti ALPS con infezioni ricorrenti Disturbo associato alla sindrome linfoproliferativa autoimmune Sindrome associata a ALPS Miopatia necrotizzante autoimmune Autoimmune necrotizing myopathy Miopatia anti-SRP Autoimmune necrotizing myopathy Miopatia necrotizzante immunomediata Autoimmune necrotizing myopathy Capillari a cannuccia di pipa Autoimmune necrotizing myopathy Miosite paraneoplastica Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Autoinflammatory syndrome Malattia autoinfiammatoria da deficit dell'antagonista del recettore dell'interleuchina-1 DIRA Aggiornamento 04/12/2012 (06) 6859-2020 [email protected] (06) 6859-2020 63/270 PatTag (english label) Lbl Behcet disease Malattia di Behçet Bullous systemic lupus erythematosus Lupus eritematoso sistemico bolloso Medico referente Fabrizio De Benedetti Fabrizio De Benedetti Bullous systemic lupus erythematosus BSLE Fabrizio De Benedetti Caffey disease Malattia di Caffey Fabrizio De Benedetti Chilblain lupus Lupus gelone Fabrizio De Benedetti Chronic cutaneous lupus erythematosus Lupus eritematoso cutaneo cronico Fabrizio De Benedetti CINCA syndrome Sindrome CINCA Fabrizio De Benedetti Fabrizio De CINCA syndrome Malattia infiammatoria multisistemica a esordio neonatale Benedetti Malattia infiammatoria multisistemica Fabrizio De CINCA syndrome infantile Benedetti CINCA syndrome Sindrome IOMID Fabrizio De Benedetti CINCA syndrome Sindrome NOMID Fabrizio De Benedetti CINCA syndrome Sindrome di Prieur-Griscelli Fabrizio De Benedetti Fabrizio De CINCA syndrome Sindrome infantile cronica articolare, cutanea e neurologica Benedetti CINCA syndrome Sindrome autoinfiammatoria Fabrizio De Benedetti CINCA syndrome Sindrome periodica associata alla criopirina Fabrizio De Benedetti CINCA syndrome Sindromi associate a CIAS1 Fabrizio De Benedetti CINCA syndrome febbre inspiegata persistente Fabrizio De Benedetti CINCA syndrome with CIAS1 mutations Sindrome CINCA con mutazioni di CIAS1 Fabrizio De Benedetti Sindrome CINCA senza mutazioni di CIAS2 Fabrizio De CINCA syndrome without CIAS1 mutations Benedetti Fabrizio De Condensing osteitis of the medial clavicle Osteite condensante della parte mediana della clavicola Benedetti Condensing osteitis of the medial clavicle Osteite asettica Fabrizio De Benedetti Corticosteroid-sensitive aseptic Ascessi asettici sensibili ai corticosteroidi Fabrizio De abscesses Benedetti Ascessi asettici disseminati Fabrizio De Corticosteroid-sensitive aseptic abscesses Benedetti Ascessi asettici sistemici Fabrizio De Corticosteroid-sensitive aseptic abscesses Benedetti Sindrome da ascessi asettici Fabrizio De Corticosteroid-sensitive aseptic abscesses Benedetti CREST syndrome Sindrome CREST Fabrizio De Benedetti Cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome Fabrizio De Benedetti Cutaneous leukocytoclastic angiitis Angioite cutanea leucocitoclastica Fabrizio De Benedetti Cutaneous leukocytoclastic angiitis Vasculite cutanea dei piccoli vasi Fabrizio De Benedetti Cutaneous leukocytoclastic angiitis Vasculite ipersensitiva cutanea Fabrizio De Benedetti Cutaneous lupus erythematosus Lupus eritematoso cutaneo Fabrizio De Benedetti Dermatomyositis Dermatomiosite Fabrizio De Benedetti Dermatomyositis DM Fabrizio De Benedetti Dermatomyositis Miosite paraneoplastica Fabrizio De Benedetti Diffuse cutaneous systemic sclerosis Sclerosi sistemica cutanea diffusa Fabrizio De Benedetti Diffuse cutaneous systemic sclerosis Sclerodermia sistemica cutanea diffusa Fabrizio De Benedetti Fabrizio De Diffuse cutaneous systemic sclerosis Sclerodermia sistemica cutanea progressiva Benedetti Diffuse cutaneous systemic sclerosis Sclerosi sistemica cutanea progressiva Fabrizio De Benedetti Drug-induced lupus erythematosus Lupus eritematoso farmaco-indotto Fabrizio De Benedetti Drug-induced lupus erythematosus DILE Fabrizio De Benedetti Early-onset sarcoidosis Sarcoidosi a esordio precoce Fabrizio De Benedetti Enthesitis-related arthritis Artrite associata a entesite Fabrizio De Benedetti Enthesitis-related arthritis Spondiloartropatia giovanile Fabrizio De Benedetti Enthesitis-related arthritis Pelvispondilite Fabrizio De Benedetti Enthesitis-related arthritis Spondiloartrite Fabrizio De Benedetti Enthesitis-related arthritis Spondiloartropatia Fabrizio De Benedetti Eosinophilic fasciitis Fascite eosinofila Fabrizio De Benedetti Aggiornamento 04/12/2012 Telefono e-mail (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] 64/270 PatTag (english label) Eosinophilic fasciitis Eosinophilic fasciitis Familial hemophagocytic lymphohistiocytosis Familial mediterranean fever Familial mediterranean fever Familial mediterranean fever Familial mediterranean fever Familial mediterranean fever Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva Giant cell arteritis Giant cell arteritis Giant cell arteritis Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Granulomatous arthritis of childhood Hughes-Stovin syndrome Hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobulinemia D with periodic fever Hypocomplementemic leucocytoclasic vasculitis Hypocomplementemic leucocytoclasic vasculitis Hypocomplementemic leucocytoclasic vasculitis Hypocomplementemic leucocytoclasic vasculitis Hypocomplementemic leucocytoclasic vasculitis Idiopathic juvenile-onset systemic arthritis Idiopathic juvenile-onset systemic arthritis Idiopathic juvenile-onset systemic arthritis Idiopathic juvenile-onset systemic arthritis Idiopathic recurrent pericarditis Idiopathic recurrent pericarditis Immune complex mediated vasculitis Infantile onset panniculitis with uveitis and systemic granulomatosis Juvenile chronic recurrent multifocal osteomyelitis Juvenile chronic recurrent multifocal osteomyelitis Juvenile chronic recurrent multifocal osteomyelitis Juvenile chronic recurrent multifocal osteomyelitis Juvenile dermatomyositis Aggiornamento 04/12/2012 Lbl Fascite diffusa con eosinofilia Medico referente Fabrizio De Benedetti Fabrizio De Benedetti Linfoistiocitosi emofagocitica familiare Fabrizio De Benedetti Febbre mediterranea familiare Fabrizio De Benedetti FMF Fabrizio De Benedetti Malattia periodica Fabrizio De Benedetti Febbre ricorrente Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Fabrizio De Fibrodisplasia ossificante progressiva Benedetti FOP Fabrizio De Benedetti Malattia dell'uomo di pietra Fabrizio De Benedetti Miosite ossificante progressiva Fabrizio De Benedetti Arterite a cellule giganti Fabrizio De Benedetti Arterite temporale Fabrizio De Benedetti Malattia di Horton Fabrizio De Benedetti Granulomatosi autoinfiammatoria Fabrizio De dell'infanzia Benedetti Artrite granulomatosa dell'infanzia Fabrizio De Benedetti Fabrizio De Artrite infiammatoria granulomatosa dermatite - uveite Benedetti PGA Fabrizio De Benedetti Sinovite granulomatosa - uveite Fabrizio De Benedetti Panniculite Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Sindrome da attivazione macrofagica Fabrizio De Benedetti febbre inspiegata persistente Fabrizio De Benedetti Sindrome di Hughes-Stovin Fabrizio De Benedetti Iperimmunoglobulinemia D associata a Fabrizio De febbre ricorrente Benedetti Iperimmunoglobulinemia D associata a Fabrizio De febbre periodica Benedetti Sindrome da iper-IgD Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Vasculite leucocitoclastica Fabrizio De ipocomplementemica Benedetti Sindrome di Mac Duffie Fabrizio De Benedetti Sindrome di McDuffie Fabrizio De Benedetti Vasculite orticarioide ipocomplementemica Fabrizio De di Mac Duffie Benedetti Vasculite orticarioide ipocomplementemica Fabrizio De di McDuffie Benedetti Artrite idiopatica giovanile a esordio Fabrizio De sistemico Benedetti Poliartrite sistemica Fabrizio De Benedetti Sindrome da attivazione macrofagica Fabrizio De Benedetti febbre inspiegata persistente Fabrizio De Benedetti Pericardite ricorrente idiopatica Fabrizio De Benedetti Pericardite recidivante idiopatica Fabrizio De Benedetti Vasculitis, immune complex mediated Fabrizio De Benedetti Panniculite a esordio infantile con uveite e Fabrizio De granulomatosi sistemica Benedetti Osteomielite multifocale ricorrente cronica, Fabrizio De forma giovanile Benedetti CRMO giovanile Fabrizio De Benedetti Osteite asettica Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Dermatomiosite giovanile Fabrizio De Benedetti Sindrome di Shulman Telefono e-mail (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 fab[email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] 65/270 PatTag (english label) Lbl Telefono e-mail Juvenile dermatomyositis DM giovanile (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Fabrizio De Benedetti Fabrizio De Benedetti Artrite idiopatica giovanile Fabrizio De Benedetti Artrite cronica giovanile Fabrizio De Benedetti Artrite reumatoide giovanile Fabrizio De Benedetti Febbre inspiegata persistente Fabrizio De Benedetti Sindrome da attivazione macrofagica Fabrizio De Benedetti Uveite Fabrizio De Benedetti Fabrizio De Polimiosite giovanile Benedetti PM giovanile Fabrizio De Benedetti Miosite paraneoplastica Fabrizio De Benedetti Artrite psoriasica giovanile Fabrizio De Benedetti Dattilite Fabrizio De Benedetti Poliartrite con fattore reumatoide negativo Fabrizio De Benedetti Uveite Fabrizio De Benedetti Poliartrite giovanile con fattore reumatoide Fabrizio De negativo e anticorpi antinucleari Benedetti (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Poliartrite con anticorpi antinucleari e senza fattore reumatoide Fabrizio De Benedetti (06) 6859-2020 [email protected] Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Juvenile rheumatoid factor-positive polyarthritis Juvenile temporal arteritis Poliartrite giovanile con fattore reumatoide Fabrizio De negativo e senza anticorpi antinucleari Benedetti (06) 6859-2020 [email protected] Poliartrite senza fattore reumatoide e anticorpi antinucleari Fabrizio De Benedetti (06) 6859-2020 [email protected] Fabrizio De Benedetti Arterite temporale giovanile Fabrizio De Benedetti Fabrizio De Arterite temporale granulomatosa non a cellule giganti con eosinofilia Benedetti Malattia di Kikuchi-Fujimoto Fabrizio De Benedetti Linfadenite istiocitica necrotizzante Fabrizio De Benedetti Malattia di Kikuchi Fabrizio De Benedetti Sclerodermia sistemica cutanea limitata Fabrizio De Benedetti Sclerosi sistemica limitata Fabrizio De Benedetti Sclerosi sistemica senza sclerodermia Fabrizio De Benedetti Lupus eritematoso - panniculite Fabrizio De Benedetti Lupus eritematoso profondo Fabrizio De Benedetti Lupus tumidus eritematoso Fabrizio De Benedetti Sindrome da attivazione dei macrofagi Fabrizio De Benedetti Eritema maculo-papulare del lupus Fabrizio De Benedetti Sindrome di Majeed Fabrizio De Benedetti Osteomielite cronica ricorrente multifocale - Fabrizio De anemia diseritropoietica congenita Benedetti dermatosi neutrofila Sindrome di Marshall con febbre periodica Fabrizio De Benedetti Fabrizio De Sindrome febbre periodica-stomatite aftosa-faringite-adenopatia (PFAPA) Benedetti Febbre ricorrente Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Sindrome di Melkersson-Rosenthal Fabrizio De Benedetti Aciduria mevalonica Fabrizio De Benedetti Deficit di mevalonato chinasi Fabrizio De Benedetti MVA Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Poliangite microscopica Fabrizio De Benedetti (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Juvenile dermatomyositis Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile idiopathic arthritis Juvenile polymyositis Juvenile polymyositis Juvenile polymyositis Juvenile psoriatic arthritis Juvenile psoriatic arthritis Juvenile temporal arteritis Kikuchi-Fujimoto disease Kikuchi-Fujimoto disease Kikuchi-Fujimoto disease Limited cutaneous systemic sclerosis Limited systemic sclerosis Limited systemic sclerosis Lupus erythematosus panniculitis Lupus erythematosus panniculitis Lupus erythematosus tumidus Macrophage activation syndrome Maculopapular lupus rash Majeed syndrome Majeed syndrome Marshall's syndrome with periodic fever Marshall's syndrome with periodic fever Marshall's syndrome with periodic fever Marshall's syndrome with periodic fever Melkersson-Rosenthal syndrome Mevalonic aciduria Mevalonic aciduria Mevalonic aciduria Mevalonic aciduria Microscopic polyangiitis Aggiornamento 04/12/2012 Medico referente Miosite paraneoplastica Poliartrite positiva al fattore reumatoide 66/270 PatTag (english label) Lbl Microscopic polyangiitis Angioite da ipersensibilità Microscopic polyangiitis Microscopic polyangiitis Microscopic polyangiitis Microscopic polyangiitis Mikulicz disease Mixed connective tissue disease Mixed connective tissue disease Mixed cryoglobulinemia Mixed cryoglobulinemia Mixed cryoglobulinemia Mixed cryoglobulinemia Muckle-Wells syndrome Muckle-Wells syndrome Muckle-Wells syndrome Muckle-Wells syndrome Muckle-Wells syndrome Multicentric reticulohistiocytosis NALP12-associated hereditary periodic fever syndrome NALP12-associated hereditary periodic fever syndrome NALP12-associated hereditary periodic fever syndrome NALP12-associated hereditary periodic fever syndrome Nonidiopathic juvenile arthritis Non-rare systemic and rhumatologic disease Oligoarticular juvenile arthritis Oligoarticular juvenile arthritis Oligoarticular juvenile arthritis Oligoarticular juvenile arthritis with antinuclear antibodies Oligoarticular juvenile arthritis with antinuclear antibodies Oligoarticular juvenile arthritis without anti-nuclear antibodies Oligoarticular juvenile arthritis without anti-nuclear antibodies Osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone Overlapping connective tissue disease Pediatric Behcet disease Pediatric polyarteritis nodosa Pediatric Sjögren syndrome Pediatric systemic disease or pediatric vasculitis Pediatric systemic lupus erythematosus Pediatric systemic sclerosis Pediatric vasculitis Periodic fever syndrome Periodic fever syndrome without identified genes Pigmented villonodular synovitis Aggiornamento 04/12/2012 Medico referente Fabrizio De Benedetti Fabrizio De Benedetti Micropoliangioite Fabrizio De Benedetti Poliarterite microscopica Fabrizio De Benedetti ANCA Fabrizio De Benedetti Malattia di Mickulicz Fabrizio De Benedetti Malattia mista del tessuto connettivo Fabrizio De Benedetti Sindrome di Sharp Fabrizio De Benedetti Fabrizio De Crioglobulinemia mista Benedetti Crioglobulinemia essenziale Fabrizio De Benedetti Crioglobulinemia primitiva Fabrizio De Benedetti Crioglobulinemia Fabrizio De Benedetti Sindrome di Muckle-Wells Fabrizio De Benedetti Orticaria - sordità - amiloidosi Fabrizio De Benedetti Fabrizio De CAPS (sindrome periodica associata alla criopirina) Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Sindromi associate a CIAS1 Fabrizio De Benedetti Reticoloistiocitosi multicentrica Fabrizio De Benedetti Sindrome da febbre periodica ereditaria Fabrizio De associata a NALP12 Benedetti FCAS2 Fabrizio De Benedetti NAPS12 Fabrizio De Benedetti Sindrome autoinfiammatoria familiare da Fabrizio De freddo, tipo 2 Benedetti Artrite giovanile non idiopatica Fabrizio De Benedetti Non-rare systemic and rhumatologic Fabrizio De disease Benedetti Artrite oligoarticolare giovanile Fabrizio De Benedetti Artrite pauciarticolare cronica Fabrizio De Benedetti Uveite Fabrizio De Benedetti Artrite oligoarticolare giovanile con Fabrizio De anticorpi antinucleari Benedetti Artrite pauciarticolare cronica con anticorpi Fabrizio De antinucleari Benedetti Artrite oligoarticolare giovanile senza Fabrizio De anticorpi antinucleari Benedetti Artrite pauciarticolare cronica senza Fabrizio De anticorpi antinucleari Benedetti Fabrizio De Osteocondrite delle ossa tarsali/metatarsali Benedetti Necrosi asettica delle ossa tarsali Fabrizio De Benedetti Osteocondrosi delle ossa tarsali Fabrizio De Benedetti Malattia di Freiberg Fabrizio De Benedetti Malattia di Kohler Fabrizio De Benedetti Fabrizio De Malattia da sovrapposizione del tessuto connettivo Benedetti Malattia di Behçet a esordio pediatrico Fabrizio De Benedetti Poliarterite nodosa a esordio pediatrico Fabrizio De Benedetti Sindrome di Sjögren a esordio infantile Fabrizio De Benedetti Malattia sistemica e vasculite di tipo Fabrizio De pediatrico Benedetti Fabrizio De Lupus eritematoso sistemico a esordio pediatrico Benedetti Sclerosi sistemica ad esordio pediatrico Fabrizio De Benedetti Pediatric vasculitis Fabrizio De Benedetti Sindrome della febbre periodica Fabrizio De Benedetti Sindrome da febbre periodica senza geni Fabrizio De identificati Benedetti Sinovite villonodulare pigmentata Fabrizio De Benedetti MPA Telefono e-mail (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 fabriz[email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] 67/270 PatTag (english label) Lbl Poikilodermatomyositis Poichilodermatomiosite Polyarteritis nodosa Polyarteritis nodosa Polyarteritis nodosa Polymyositis Polymyositis Polymyositis Predominantly large-vessel vasculitis Predominantly medium-vessel vasculitis Predominantly small-vessel vasculitis Primary Sjögren's syndrome Progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy of childhood Purpura fulminans Pustulo-psoriatic hyperostotic spondylarthritis Pustulo-psoriatic hyperostotic spondylarthritis Pyogenic arthritis - pyoderma gangrenosum - acne Pyogenic arthritis - pyoderma gangrenosum - acne Pyogenic arthritis - pyoderma gangrenosum - acne Pyogenic bacterial infections due to MyD88 deficiency Pyomyositis Rare rheumatologic disease Rare rheumatological disease of childhood Rare systemic or rheumatologic disease Reactive arthritis Reactive arthritis Reactive arthritis Reactive arthritis Reactive arthritis Reactive arthritis Reactive arthritis Relapsing polychondritis Retroperitoneal fibrosis Retroperitoneal fibrosis Rheumatic fever Rheumatic fever Rheumatoid arthritis SAPHO syndrome SAPHO syndrome SAPHO syndrome SAPHO syndrome Sarcoidosis Sarcoidosis Sarcoidosis Satoyoshi syndrome Schnitzler syndrome Schnitzler syndrome Aggiornamento 04/12/2012 Medico referente Fabrizio De Benedetti Fabrizio De Benedetti Malattia di Küssmaul-Maier Fabrizio De Benedetti Periartrite nodosa Fabrizio De Benedetti Polimiosite Fabrizio De Benedetti PM Fabrizio De Benedetti Miosite paraneoplastica Fabrizio De Benedetti Vasculitis, predominantly large-vessel Fabrizio De Benedetti Fabrizio De Vasculitis, predominantly medium-vessel Benedetti Vasculitis, predominantly small-vessel Fabrizio De Benedetti Primary Sjögren's syndrome Fabrizio De Benedetti Artropatia pseudoreumatoide progressiva Fabrizio De infantile Benedetti Displasia spondiloepifisaria - artropatia Fabrizio De progressiva Benedetti Porpora fulminante Fabrizio De Benedetti Spondiloartrite iperostotica pustoloFabrizio De psoriasica Benedetti PPHS Fabrizio De Benedetti Artrite piogenica - pioderma gangrenoso - Fabrizio De acne Benedetti Artrite ricorrente familiare Fabrizio De Benedetti Sindrome PAPA Fabrizio De Benedetti Infezioni batteriche piogeniche da deficit di Fabrizio De Benedetti MyD88 Piomiosite Fabrizio De Benedetti Rare rheumatologic disease Fabrizio De Benedetti Rare rheumatological disease of childhood Fabrizio De Benedetti Malattia reumatologica e sistemica Fabrizio De Benedetti Artrite reattiva Fabrizio De Benedetti Artrite uretritica Fabrizio De Benedetti Artrite venerea Fabrizio De Benedetti Malattia di Fiessinger-Leroy Fabrizio De Benedetti Poliarterite enterica Fabrizio De Benedetti Sindrome di Fiessinger-Leroy-Reiter Fabrizio De Benedetti Sindrome di Reiter Fabrizio De Benedetti Policondrite ricorrente Fabrizio De Benedetti Fibrosi retroperitoneale Fabrizio De Benedetti Malattia di Ormond Fabrizio De Benedetti Febbre reumatica Fabrizio De Benedetti Febbre inspiegata persistente Fabrizio De Benedetti Rheumatoid arthritis Fabrizio De Benedetti Sindrome SAPHO Fabrizio De Benedetti Fabrizio De Sinovite - acne - pustolosi - iperostosi osteite Benedetti Osteite asettica Fabrizio De Benedetti Sindrome autoinfiammatoria Fabrizio De Benedetti Sarcoidosi Fabrizio De Benedetti Malattia di Besnier-Boeck-Schaumann Fabrizio De Benedetti Malattia di Boeck Fabrizio De Benedetti Sindrome di Satoyoshi Fabrizio De Benedetti Sindrome di Schnitzler Fabrizio De Benedetti Orticaria cronica con macroglobulinemia Fabrizio De Benedetti Poliarterite nodosa Telefono e-mail (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] 68/270 PatTag (english label) Lbl Scleroderma Sclerodermia Scleromyxedema Scleromyxedema Scleromyxedema Scleromyxedema Scleromyxedema without monoclonal gammopathy Scleromyxedema without monoclonal gammopathy Secondary amyloidosis Secondary amyloidosis Secondary amyloidosis Secondary amyloidosis Secondary hemophagocytic lymphohistiocytosis Secondary hemophagocytic lymphohistiocytosis Secondary hemophagocytic lymphohistiocytosis Secondary Sjögren's syndrome Simple cryoglobulinemia Simple cryoglobulinemia Simple cryoglobulinemia Sjögren's syndrome Sjögren's syndrome Sjögren's syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Systemic autoimmune disease Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic lupus erythematosus Telefono e-mail Fabrizio De Benedetti Fabrizio De Benedetti Eruzione papulosa lichenoide generalizzata Fabrizio De Benedetti Fabrizio De Lichen mixedematoso sclerodermoide e papuloso generalizzato Benedetti Malattia di Arndt-Gottron Fabrizio De Benedetti Scleromixedema senza gammopatia Fabrizio De monoclonale Benedetti Scleromixedema senza gammopatia Fabrizio De monoclonale Benedetti Amiloidosi secondaria Fabrizio De Benedetti Fabrizio De Amiloidosi AA Benedetti Amiloidosi infiammatoria Fabrizio De Benedetti Amiloidosi reattiva Fabrizio De Benedetti Linfoistiocitosi emofagocitica secondaria Fabrizio De Benedetti Linfoistiocitosi emofagocitica acquisita Fabrizio De Benedetti Sindrome emofagocitica reattiva Fabrizio De Benedetti Secondary Sjögren's syndrome Fabrizio De Benedetti Crioglobulinemia semplice Fabrizio De Benedetti Crioglobulinemia, tipo 1 Fabrizio De Benedetti Crioglobulinemia Fabrizio De Benedetti Sindrome di Sjögren Fabrizio De Benedetti Sindrome di Mickulitz Fabrizio De Benedetti Sindrome di Sjögren-Gougerot Fabrizio De Benedetti Malattia autoimmune multisistemica Fabrizio De sindromica da deficit di Itch Benedetti Systemic autoimmune disease Fabrizio De Benedetti Systemic diseases with anterior uveitis Fabrizio De Benedetti Systemic diseases with panuveitis Fabrizio De Benedetti Systemic diseases with posterior uveitis Fabrizio De Benedetti Malattia infiammatoria sistemica associata Fabrizio De a neuropatia periferica acquisita Benedetti (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Lupus eritematoso sistemico (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Scleromixedema Systemic sclerosis Sclerosi sistemica Takayasu arteritis Arterite di Takayasu TRAPS syndrome Sindrome TRAPS TRAPS syndrome Febbre iberniana familiare TRAPS syndrome Febbre periodica, autosomica dominante TRAPS syndrome TRAPS syndrome Sindrome periodica associata al recettore 1 del TNF Febbre ricorrente TRAPS syndrome Sindrome autoinfiammatoria Type II mixed cryoglobulinemia Crioglobulinemia mista, tipo 2 Type III mixed cryoglobulinemia Crioglobulinemia mista, tipo 3 Unclassified juvenile idiopathic arthritis Artrite idiopatica giovanile non classificata Unclassified juvenile idiopathic arthritis Autoinfiammatoria Unclassified overlapping connective tissue disease Unclassified vasculitis Malattia da sovrapposizione del tessuto connettivo non classificata Vasculite non classificata Undifferentiated connective tissue syndrome Unexplained long-lasting fever/inflammatory syndrome Vasculitis Sindromi indifferenziate del tessuto connettivo Sindrome infiammatoria/febbre di lunga durata di origine sconosciuta Vasculite Wegener granulomatosis Granulomatosi di Wegener Wegener granulomatosis GPA Aggiornamento 04/12/2012 Medico referente Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti 69/270 PatTag (english label) Lbl Wegener granulomatosis Granulomatosi con poliangite Wegener granulomatosis ANCA Wells syndrome Sindrome di Wells Wells syndrome Cellulite da eosinofili X-linked immune dysregulation polyendocrinopathy - enteropathy X-linked immune dysregulation polyendocrinopathy - enteropathy Enteropatia autoimmune, tipo 1 IPEX 10p11.21p12.31 microdeletion syndrome 10p11.21p12.31 microdeletion syndrome Medico referente Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Fabrizio De Benedetti Telefono e-mail (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] (06) 6859-2020 [email protected] Maria C. Digilio (06) 6859-2744 [email protected] 10q22.3q23.3 microdeletion syndrome Sindrome da microdelezione 10q22.3q23.3 Maria C. Digilio (06) 6859-2744 [email protected] 10q22.3q23.3 microdeletion syndrome Del(10)(q22.3q23.3) Maria C. Digilio (06) 6859-2744 [email protected] 10q22.3q23.3 microdeletion syndrome Delezione 10q22.3q23.3 Maria C. Digilio (06) 6859-2744 [email protected] 10q22.3q23.3 microdeletion syndrome Monosomia 10q22.3q23.3 Maria C. Digilio (06) 6859-2744 [email protected] 10q22.3q23.3 microduplication syndrome 10q22.3q23.3 microduplication syndrome 10q22.3q23.3 microduplication syndrome 12q14 microdeletion syndrome 12q14 microdeletion syndrome 12q14 microdeletion syndrome 12q14 microdeletion syndrome 12q14 microdeletion syndrome Sindrome da microduplicazione 10q22.3q23.3 Dup(10)(q22.3q23.3) Maria C. Digilio (06) 6859-2744 [email protected] Maria C. Digilio (06) 6859-2744 [email protected] Trisomia 10q22.3q23.3 Maria C. Digilio (06) 6859-2744 [email protected] Maria Maria Maria Maria Maria (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] Maria C. Digilio (06) 6859-2744 [email protected] Maria C. Digilio (06) 6859-2744 [email protected] Maria C. Digilio (06) 6859-2744 [email protected] 12q15q21.1 microdeletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome Sindrome da microdelezione 12q14 Del(12)(q14) Delezione 12q14 Monosomia 12q14 Osteopoichilosi - bassa statura - deficit cognitivo Osteopoichilosi - bassa statura - ritardo mentale Osteopoichilosi - bassa statura - deficit cognitivo Osteopoichilosi - bassa statura - ritardo mentale 12q15q21.1 microdeletion syndrome Sindrome da microdelezione 14q11.2 Del(14)(q11.2) Monosomia 14q11.2 Sindrome da microduplicazione 14q11.2 Maria Maria Maria Maria Maria C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] 14q11.2 microduplication syndrome 14q11.2 microduplication syndrome 14q12 microdeletion syndrome 14q12 microdeletion syndrome 14q12 microdeletion syndrome 14q22q23 microdeletion syndrome 14q22q23 microdeletion syndrome 14q22q23 microdeletion syndrome 14q22q23 microdeletion syndrome 14q22q23 microdeletion syndrome Dup(14)(q11.2) Trisomia 14q11.2 Sindrome da microdelezione 14q12 Del(14)(q12) Monosomia 14q12 Sindrome da microdelezione 14q22q23 Del(14)(q22q23) Monosomia 14q22-q23 Monosomia 14q22q23 Sindrome da microdelezione 14q22-q23 Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 15q11.2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 microduplication syndrome Sindrome da microdelezione 15q11.2 Del(15)(q11.2) Monosomia 15q11.2 Sindrome da microduplicazione 15q11q13 Maria Maria Maria Maria C. C. C. C. Digilio Digilio Digilio Digilio (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] 15q11q13 15q11q13 15q11q13 15q11q13 Dup(15)(q11q13) Sindrome da duplicazione 15q11-q13 Sindrome da duplicazione 15q11q13 Sindrome da microduplicazione 15q11-q13 Maria Maria Maria Maria C. C. C. C. Digilio Digilio Digilio Digilio (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Trisomia 15q11-q13 Trisomia 15q11q13 Sindrome da microdelezione 15q13.3 Del(15)(q13.3) Monosomia 15q13.3 Sindrome da microdelezione 15q14 Del(15)(q14) Monosomia 15q14 Sindrome da microdelezione 15q24 Del(15)(q24) Monosomia 15q24 Ritardo della crescita - microcefalia anomalie digitali - ipospadia Sindrome da microdelezione 16p11.2 Del(16)(p11.2) Monosomia 16p11.2 Sindrome da microduplicazione 16p11.2 Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Maria Maria Maria Maria C. C. C. C. Digilio Digilio Digilio Digilio (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] Dup(16)(p11.2) Maria C. Digilio Trisomia 16p11.2 Maria C. Digilio Sindrome da microdelezione 16p11.2p12.2 Maria C. Digilio (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Maria C. Digilio (06) 6859-2744 [email protected] 16p11.2p12.2 microdeletion syndrome Monosomia 16p11.2-p12.2 Maria C. Digilio (06) 6859-2744 [email protected] 12q14 microdeletion syndrome 12q14 microdeletion syndrome 12q14 microdeletion syndrome microduplication microduplication microduplication microduplication syndrome syndrome syndrome syndrome 15q11q13 microduplication syndrome 15q11q13 microduplication syndrome 15q13.3 microdeletion syndrome 15q13.3 microdeletion syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q14 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q24 microdeletion syndrome 15q24 microdeletion syndrome 15q24 microdeletion syndrome 16p11.2 16p11.2 16p11.2 16p11.2 microdeletion syndrome microdeletion syndrome microdeletion syndrome microduplication syndrome 16p11.2 microduplication syndrome 16p11.2 microduplication syndrome 16p11.2p12.2 microdeletion syndrome Aggiornamento 04/12/2012 C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio 70/270 PatTag (english label) Lbl Medico referente Telefono e-mail 16p11.2p12.2 microdeletion syndrome Monosomia 16p11.2p12.2 Maria C. Digilio (06) 6859-2744 [email protected] 16p11.2p12.2 microdeletion syndrome Sindrome da microdelezione 16p11.2p12.2 Sindrome da microdelezione 16p13.11 Del(16)(p13.11) Monosomia 16p13.11 Sindrome da microduplicazione 16p13.11 Maria C. Digilio (06) 6859-2744 [email protected] Maria Maria Maria Maria C. C. C. C. Digilio Digilio Digilio Digilio (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] 16p13.11 microduplication syndrome 16p13.11 microduplication syndrome 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome 17p11.2 microduplication syndrome Dup(16)(p13.11) Trisomia 16p13.11 Sindrome da microdelezione 16q24.3 Del(16)(q24.3) Monosomia 16q24.3 Sindrome da microduplicazione 17p11.2 Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 17p11.2 17p11.2 17p11.2 17p13.3 syndrome syndrome syndrome syndrome Sindrome di Potocki-Lupski Trisomia 17p11.2 Cromosoma 17 Sindrome da microduplicazione 17p13.3 Maria Maria Maria Maria C. C. C. C. Digilio Digilio Digilio Digilio (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] 17p13.3 microduplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11 microdeletion syndrome 17q11 microdeletion syndrome 17q11 microdeletion syndrome 17q11 microdeletion syndrome Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 17q11.2 microduplication syndrome Dup(17)(p13.3) Trisomia 17p13.3 Sindrome da microdelezione 17q11 Del(17)(q11) Monosomia 17q11 Sindrome di NF1 da microdelezione Sindrome di neurofibromatosi tipo 1 da microdelezione Sindrome da microduplicazione 17q11.2 Maria C. Digilio (06) 6859-2744 [email protected] 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microdeletion syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q12 microduplication syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microdeletion syndrome 17q21.31 microdeletion syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome Dup(17)(q11.2) Sindrome di Grisart-Destrée Trisomia 17q11.2 Sindrome da microdelezione 17q12 Del(17)(q12) Monosomia 17q12 Sindrome da microduplicazione 17q12 Dup(17)(q12) Trisomia 17q12 Sindrome da microdelezione 17q21.31 Del(17)(q21.31) Monosomia 17q21.31 Cromosoma 17 Sindrome da microduplicazione 17q21.31 Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 17q21.31 microduplication syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome Dup(17)(q21.31) Maria C. Digilio Trisomia 17q21.31 Maria C. Digilio Sindrome da microdelezione 17q23.1q23.2 Maria C. Digilio (06) 6859-2744 (06) 6859-2744 (06) 6859-2744 [email protected] [email protected] [email protected] 17q23.1q23.2 microdeletion syndrome Del(17)(q23.1q23.2) Maria C. Digilio (06) 6859-2744 [email protected] 17q23.1q23.2 microdeletion syndrome Monosomia 17q23.1-q23.2 Maria C. Digilio (06) 6859-2744 [email protected] 17q23.1q23.2 microdeletion syndrome Monosomia 17q23.1q23.2 16p13.11 16p13.11 16p13.11 16p13.11 microdeletion syndrome microdeletion syndrome microdeletion syndrome microduplication syndrome microduplication microduplication microduplication microduplication C. C. C. C. C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Maria C. Digilio (06) 6859-2744 [email protected] Sindrome da microdelezione 17q23.1q23.2 19p13.12 microdeletion syndrome Sindrome da microdelezione 19p13.12 19p13.12 microdeletion syndrome Del(19)(p13.12) 19p13.12 microdeletion syndrome Monosomia 19p13.12 19q13.11 microdeletion syndrome Sindrome da microdelezione 19q13.11 19q13.11 microdeletion syndrome Del(19)(q13.11) 19q13.11 microdeletion syndrome Monosomia 19q13.1 1q21.1 microdeletion syndrome Sindrome da microdelezione 1q21.1 1q21.1 microdeletion syndrome Del(1)(q21) 1q21.1 microdeletion syndrome Monosomia 1q21.1 1q21.1 microduplication syndrome Sindrome da microduplicazione 1q21.1 1q21.1 microduplication syndrome Dup(1)(q21.1) 1q21.1 microduplication syndrome Trisomia 1q21.1 1q41q42 microdeletion syndrome Sindrome da microdelezione 1q41q42 1q41q42 microdeletion syndrome Del(1)(q41q42) 1q41q42 microdeletion syndrome Monosomia 1q41-q42 1q41q42 microdeletion syndrome Monosomia 1q41q42 1q41q42 microdeletion syndrome Sindrome da microdelezione 1q41-q42 1q44 microdeletion syndrome Sindrome da microdelezione 1q44 1q44 microdeletion syndrome Del(1)(q44) 1q44 microdeletion syndrome Monosomia 1q44 2,8 dihydroxyadenine urolithiasis 2,8-diidrossiadenina urolitiasi 2,8 dihydroxyadenine urolithiasis Deficit di adenosin fosforibosiltransferasi 20p12.3 microdeletion syndrome Sindrome da microdelezione 20p12.3 20p12.3 microdeletion syndrome Del(20)(p12.3) 20p12.3 microdeletion syndrome Monosomia 20p12.3 20q13.33 microdeletion syndrome Sindrome da microdelezione 20q13.33 20q13.33 microdeletion syndrome Del(20)(q13.33) 20q13.33 microdeletion syndrome Monosomia 20q13.33 21q22.11q22.12 microdeletion syndrome Sindrome da microdelezione 21q22.11q22.12 21q22.11q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Maria C. Digilio (06) 6859-2744 [email protected] Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] mcristi[email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] Maria C. Digilio (06) 6859-2744 [email protected] 21q22.11q22.12 microdeletion syndrome Monosomia 21q22.11-q22.12 Maria C. Digilio (06) 6859-2744 [email protected] 21q22.11q22.12 microdeletion syndrome Monosomia 21q22.11q22.12 Maria C. Digilio (06) 6859-2744 [email protected] 17q23.1q23.2 microdeletion syndrome Aggiornamento 04/12/2012 C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio 71/270 PatTag (english label) Lbl Medico referente Telefono e-mail 21q22.11q22.12 microdeletion syndrome Sindrome da microdelezione 21q22.11q22.12 Sindrome da microdelezione 21q22.13q22.2 21q22.13q22.2 microdeletion syndrome Del(21)(q22.13q22.2) Maria C. Digilio (06) 6859-2744 [email protected] Maria C. Digilio (06) 6859-2744 [email protected] Maria C. Digilio (06) 6859-2744 [email protected] 21q22.13q22.2 microdeletion syndrome Monosomia 21q22.13-q22.2 Maria C. Digilio (06) 6859-2744 [email protected] 21q22.13q22.2 microdeletion syndrome Monosomia 21q22.13q22.2 Maria C. Digilio (06) 6859-2744 [email protected] 21q22.13q22.2 microdeletion syndrome Sindrome da microdelezione 21q22.13q22.2 Sindrome da microduplicazione 22q11.2 Maria C. Digilio (06) 6859-2744 [email protected] 22q11.2 microduplication syndrome Maria C. Digilio (06) 6859-2744 [email protected] 22q11.2 microduplication syndrome 22q11.2 microduplication syndrome 22q11.2 microduplication syndrome 22q11.2 microduplication syndrome 2p15p16.1 microdeletion syndrome Dup22q11 Duplicazione 22q11.2 Trisomia 22q11.2 Cromosoma 22 Sindrome da microdelezione 2p15p16.1 Maria Maria Maria Maria Maria C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] 2p15p16.1 2p15p16.1 2p15p16.1 2p15p16.1 Del(2)(p15p16.1) Monosomia 2p15-p16.1 Monosomia 2p15p16.1 Sindrome da microdelezione 2p15-p16.1 Maria Maria Maria Maria C. C. C. C. Digilio Digilio Digilio Digilio (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] 2p21 microdeletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microdeletion syndrome 2q24 microdeletion syndrome 2q24 microdeletion syndrome 2q24 microdeletion syndrome 2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q33.1 microdeletion syndrome 2q33.1 microdeletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 2q37 microdeletion syndrome 2q37 microdeletion syndrome 2q37 microdeletion syndrome 2q37 microdeletion syndrome 2q37 microdeletion syndrome 2q37 microdeletion syndrome Sindrome da microdelezione 2p21 Del(2)(p21) Delezione 2p21 Monosomia 2p21 Sindrome da microdelezione 2q23.1 Del(2)(q23.1) Monosomia 2q23.1 Sindrome pseudo-Angelman Sindrome da microdelezione 2q24 Del(2)(q24) Monosomia 2q24 Sindrome da microdelezione 2q31.1 Del(2)(q31.1) Monosomia 2q31.1 Sindrome da microdelezione 2q32q33 Del(2)(q32) Del(2)(q32q33) Monosomia 2q32 Monosomia 2q32-q33 Monosomia 2q32q33 Sindrome da microdelezione 2q32-q33 Sindrome da microdelezione 2q33.1 Del(2)(q33.1) Monosomia 2q33.1 Sindrome da microdelezione 2q37 Brachidattilia - deficit cognitivo Del(2)(q37) Delezione 2q37 Delezione 2q37-qter Monosomia 2q37-qter Osteodistrofia ereditaria di Albright, tipo 3 Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 2q37 microdeletion syndrome Maria C. Digilio (06) 6859-2744 [email protected] 2q37 microdeletion syndrome 2q37 microdeletion syndrome 3C syndrome 3C syndrome 3C syndrome 3M syndrome 3M syndrome 3M syndrome 3M syndrome 3M syndrome 3q13 microdeletion syndrome 3q13 microdeletion syndrome 3q13 microdeletion syndrome 3q26 microduplication syndrome 3q26 microduplication syndrome 3q26 microduplication syndrome 3q26 microduplication syndrome 3q26 microduplication syndrome 3q29 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microdeletion syndrome Sindrome osteodistrofica ereditaria Albright-simile Brachidattialia - ritardo mentale Cromosoma 2 Sindrome 3C Displasia cranio-cerebello-cardiaca Sindrome di Ritscher-Schinzel Sindrome 3M Displasia dolicospondilica Sindrome 3-M Sindrome di Gloomy Sindrome di Le Merrer Sindrome da microdelezione 3q13 Del(3)(q13) Monosomia 3q13 Sindrome da microduplicazione 3q26 Dup(3)(q26) Sindrome simil Cornelia de Lange Trisomia 3q26 Cromosoma 3 Sindrome da microdelezione 3q29 Del(3)(q29) Delezione 3qter Monosomia 3q29 Monosomia 3qter Sindrome da delezione 3q subtelomerica Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 3q29 microdeletion syndrome 3q29 microduplication 3q29 microduplication 47,XYY syndrome 47,XYY syndrome 48,XXXY syndrome 48,XXXY syndrome 48,XXYY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXXY syndrome Cromosoma 3 Microduplicazione 3q29 Trisomia 3q29 Sindrome 47,XYY Doppio Y Sindrome 48,XXXY 48, XXXY Sindrome 48,XXYY 48,XXYY 48,XYYY Sindrome 49,XXXXY Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. C. C. C. C. Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio Digilio (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) (06) 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 6859-2744 [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] [email protected] 21q22.13q22.2 microdeletion syndrome microdeletion microdeletion microdeletion microdeletion syndrome syndrome syndrome syndrome Aggiornamento 04/12/2012 72/270 PatTag (english label) Lbl 49,XXXXY syndrome 49,XXXYY syndrome 49,XYYYY syndrome 4q21 microdeletion syndrome 4q21 microdeletion syndrome 4q21 microdeletion syndrome 5q14.3 microdeletion syndrome 5q14.3 microdeletion syndrome 5q14.3 microdeletion syndrome 5q35 microduplication syndrome 5q35 microduplication syndrome 5q35 microduplication syndrome 6p22 microdeletion syndrome 6p22 microdeletion syndrome 6p22 microdeletion syndrome 6q terminal deletion 6q25 microdeletion syndrome 6q25 microdeletion syndrome 6q25 microdeletion syndrome 7q11.23 microduplication syndrome 49, XXXXY Sindrome 49,XXXYY 49,XYYYY Sindrome da microdelezione 4q21 Del(4)(q21) Monosomia 4q21 Sindrome da microdelezione 5q14.3 Del(5)(q14.3) Monosomia 5q14.3 Sindrome da microduplicazione 5q35 Dup(5)(q35) Trisomia 5q35 Sindrome da microdelezione 6p22 Del(6)(p22) Monosomia 6p22 Delezione terminale di 6q Sindrome da microdelezione 6q25 Del(6)(q25) Monosomia 6q25 Sindrome da microduplicazione 7q11.23 Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria Maria C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. C. 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome 7q31 microdeletion syndrome 7q31 microdeletion syndrome 7q31 microdeletion syndrome 8p inverted duplication/deletion 8p inverted duplication/deletion 8p11.2 deletion syndrome 8p11.2 deletion syndrome 8p11.2 deletion syndrome 8p23.1 microdeletion syndrome 8p23.1 microdeletion syndrome 8p23.1 microdeletion syndrome 8p23.1 microduplication syndrome 8p23.1 microduplication syndrome 8p23.1 microduplication syndrome 8q12 microduplication syndrome 8q12 microduplication syndrome 8q12 microduplication syndrome 8q13 microdeletion syndrome 8q13 microdeletion syndrome 8q13 microdeletion syndrome 8q13 microdeletion syndrome 8q21.11 microdeletion syndrome 8q22.1 microdeletion syndrome 8q22.1 microdeletion syndrome 8q22.1 microdeletion syndrome Dup(7)(q11.23) Monosomia 7q11.23 Cromosoma 7 Sindrome da microdelezione 7q31 Del(7)(q31) Monosomia 7q31 Duplicazione/delezione invertita 8p Cromosoma 8 Sindrome da delezione 8p11.2 Del(8)(p11.2) Monosomia 8p11.2 Sindrome da microdelezione 8p23.1