ORPHA:3226

Deafness-lymphedema-leukemia syndrome

Synonyms: Emberger syndrome · Hearing loss-lymphedema-leukemia syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GATA2 deficiency spectrum

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Deafness-lymphedema-leukemia syndrome	Emberger syndrome · Hearing loss-lymphedema-leukemia syndrome
fr	Syndrome de surdité-lymphoedème-leucémie	Syndrome d'Emberger
de	Taubheit-Lymphödem-Leukämie-Syndrom	Emberger-Syndrom
es	Síndrome de sordera-linfedema-leucemia	Síndrome de Emberger · Síndrome de hipoacusia-linfedema-leucemia
it	Sindrome sordità-linfedema-leucemia	Sindrome di Emberger
nl	Doofheid - lymfoedeem - leukemie-syndroom	Syndroom van Emberger
pt	Síndrome de surdez-linfedema-leucemia	Síndrome Emberger · Síndrome de perda auditiva-linfedema-leucemia
pl	Głuchota -obrzęk limfatyczny - białaczka	Zespół Embergera
cs	Syndrom zahrnující hluchotu, lymfedém a leukémii	Embergerův syndrom
uk	Синдром глухоти-лімфедеми-лейкозу	Синдром Ембергера · Синдром втрати слуху-лімфедеми-лейкозу
zh	耳聋-淋巴水肿-白血病综合征	听力丧失-淋巴水肿-白血病综合征
tr	Sağırlık-lenfödem-lösemi sendromu	Emberger sendromu · İşitme kaybı-lenfödem-lösemi sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614038	E		validated
ICD-10	D46.7	NTBT	attributed	validated
ICD-11	BD93.0	NTBT	index	validated
MONDO	0013540	E		validated
UMLS	C3279664	E		validated
GARD	13030	E		validated

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

Not placed in any Orphanet classification in this release.

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.