Preferred Name |
Williams syndrome |
|
Synonyms |
Syndrome de Williams-Beuren Monosomia 7q11.23 Williams-Beuren, síndrome de Monosomy 7q11.23 |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_145 |
|
ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
altLabel |
Syndrome de Williams-Beuren Monosomia 7q11.23 Williams-Beuren, síndrome de Monosomy 7q11.23 Síndrome de Williams-Beuren Monosomie 7q11.23 Williams-Beuren syndrome Síndrome de Williams-Beuren Sindrome di Williams-Beuren Williams-Beuren-Syndrom Deletion 7q11.23 Delezione 7q11.23 Délétion 7q11.23 |
|
id_MedDRA |
10049644 |
|
id_Medline | ||
id_MeSH |
D018980 |
|
id_MIM |
194050 |
|
id_OMS |
Q87.8 |
|
id_Orpha |
904 |
|
id_SNOMEDCT |
63247009 |
|
id_UMLS |
C0175702 |
|
inheritance |
Esporádico Sporadic Sporadisch Sporadique Sporadica Sporadic Esporádica |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_145 |
|
prefLabel |
Sindrome di Williams Síndrome de Williams Síndrome de Williams Williams syndrome Syndrome de Williams Williams-Syndrom |
|
prevalence |
Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto |
|
subClassOf |