Cataract – hypertrichosis – intellectual deficit

Preferred Label : Cataract – hypertrichosis – intellectual deficit;

ICD-11 definition : Cataract - hypertrichosis - intellectual deficit syndrome is an inherited syndrome characterized by congenital cataract, generalized hypertrichosis and intellectual deficit.;

ICD-11 synonym : Cataract - hypertrichosis - mental retardation syndrome;

Détails

Origin ID

719310172;

UMLS CUI

C0796282;

Currated CISMeF NLP mapping
- CAHMR syndrome [MeSH concept]
- CAHMR syndrome [MeSH Supplementary Concept]
- Cahmr syndrome [OMIM Phenotype]
- Cataract-hypertrichosis-intellectual disability syndrome [ORDO Disease]
- Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CAHMR syndrome [MeSH concept]
- CAHMR syndrome [MeSH Supplementary Concept]
- Cahmr syndrome [OMIM Phenotype]
- Cataract-hypertrichosis-intellectual disability syndrome [ORDO Disease]
- Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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