Preferred Name |
Costello syndrome |
|
Synonyms |
Facio-cutâneo-esquelético, síndrome FCS-Syndrom Sindrome facio-cutaneo-scheletrica Ritardo mentale - papillomi nasali FCS, síndrome Syndrome FCS Syndrome facio-cutanéo-squelettique Sindrome FCS Faciocutaneoskeletal syndrome |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_574 |
|
ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
altLabel |
Facio-cutâneo-esquelético, síndrome FCS-Syndrom Sindrome facio-cutaneo-scheletrica Ritardo mentale - papillomi nasali FCS, síndrome Syndrome FCS Syndrome facio-cutanéo-squelettique Sindrome FCS Faciocutaneoskeletal syndrome Intellectual deficit - nasal papillomata Atraso mental - papilomas nasais FCS syndrome Fazio-kutano-skelettales Syndrom Déficit intellectuel - papillomatose nasale Síndrome FCS Síndrome facio-cutâneo-esquelético Geistige Retardierung - Nasenpapillome |
|
id_MedDRA |
10067380 |
|
id_Medline | ||
id_MeSH |
D056685 |
|
id_MIM |
218040 |
|
id_OMS |
Q87.8 |
|
id_Orpha |
3071 |
|
id_SNOMEDCT |
309776008 |
|
id_UMLS |
C0587248 |
|
inheritance |
Autosomal dominant Autosomique dominant Esporádico Autosomal dominant Autosomica dominante Autosómico dominate Sporadic Sporadisch Sporadique Autosomal-dominant Sporadica Sporadic Autossómica dominante Esporádica |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_574 |
|
prefLabel |
Síndrome de Costello Costello syndrome Syndrome de Costello Costello-Syndrom Sindrome di Costello Síndrome de Costello |
|
prevalence |
<1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 |
|
subClassOf |