ORPHA:1474

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Synonyms: Hittner-Hirsch-Kreh syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHARGE syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Colobomatous-microphthalmia-heart disease-hearing loss syndrome	Hittner-Hirsch-Kreh syndrome
fr	Syndrome de colobome-microphtalmie-cardiopathie-surdité	Syndrome de Hittner-Hirsch-Kreh
de	Kolobomatöse Mikrophthalmie - Kardiopathie - Schwerhörigkeit	Hittner-Hirsch-Kreh-Syndrom
es	Síndrome de coloboma-microftalmia-cardiopatía-hipoacusia	Síndrome de Hittner-Hirsch-Kreh
it	Coloboma - microftalmia - cardiopatia - sordità	Sindrome di Hittner-Hirsch-Kreh
nl	Coloboom - microftalmie - hartziekte - gehoorverlies-syndroom	Syndroom van Hittner-Hirsch-Kreh
pt	Síndrome de microftalmia colobomatosa-cardiopatia-perda auditiva	Síndrome Hittner-Hirsch-Kreh
pl	Małoocze szczelinowate - choroba serca - utrata słuchu	Zespół Hittnera, Hirscha i Kreha
cs	Syndrom zahrnující kolobom, mikroftalmii, srdeční vadu a ztrátu sluchu	Hittnerův-Hirschův-Krehův syndrom · Hittner-Hirsch-Krehův syndrom
uk	Синдром колобоматозу-мікрофтальмія-серцево-судинних захворювань-втрати слуху	Синдром Хіттнера-Хірша-Креха
zh	眼底缺损-小眼球-心脏病-听力丧失综合征	Hittner-Hirsch-Kreh 综合征
tr	Kolobomatöz-mikroftalmi-kalp hastalığı-işitme kaybı sendromu	Hittner-Hirsch-Kreh sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C2931818	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.