ORPHA:96076

Beckwith-Wiedemann syndrome due to 11p15 microduplication

This disease is described under Beckwith-Wiedemann syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Beckwith-Wiedemann syndrome due to 11p15 microduplication
fr	Syndrome de Beckwith-Wiedemann dû à une microduplication 11p15
de	Beckwith-Wiedemann-Syndrom durch Mikroduplikation 11p15	Duplikation 11p15, distale
es	Síndrome de Beckwith-Wiedemann por microduplicación 11p15
it	Sindrome di Beckwith-Wiedemann da microduplicazione 11p15
nl	Syndroom van Beckwith-Wiedemann door 11p15-microduplicatie
pt	Trissomia distal 11p15
pl	Zespół Beckwitha i Wiedemanna spowodowany mikroduplikacją 11p15
cs	Beckwithův-Wiedemannův syndrom způsobený mikroduplikací 11p15	Beckwith-Wiedemannův syndrom způsobený mikroduplikací 11p15
uk	Синдром Беквіта-Відемана, зумовлений мікродуплікацією 11p15
zh	11p15微重复所致贝克威思-威德曼综合征
tr	11p15 mikroduplikasyonuna bağlı Beckwith-Wiedemann sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q87.3	NTBT	attributed	validated
ICD-11	LD2C	NTBT	attributed	validated
MONDO	0019875	E		validated
UMLS	C5681581	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:116Beckwith-Wiedemann syndrome
rare cardiac diseases; rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare otorhinolaryngological diseases; rare neoplastic diseases; rare surgical maxillo-facial diseases; rare transplant-related disorders
ORPHA:262785Partial duplication of the short arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.