iris dysplasia hypertelorism deafness

Preferred Label : iris dysplasia hypertelorism deafness;

MeSH note : Axenfeld Rieger anomaly with partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial;

Détails

Origin ID

C535537;

UMLS CUI

C2930925;

Currated CISMeF NLP mapping
- De Hauwere syndrome [ORDO Disease]
- Iris dysplasia - hypertelorism - deafness [ICD-11 More detail]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- anterior chamber [MeSH Descriptor]
- facies [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
ORDO relation(s)
- De Hauwere syndrome [ORDO Disease]
Record concept(s)
- Iris dysplasia hypertelorism deafness [MeSH concept]
See also (suggested by CISMeF)
- de hauwere leroy adriaenssens syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- De Hauwere syndrome [ORDO Disease]
- Iris dysplasia - hypertelorism - deafness [ICD-11 More detail]

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