reardon wilson cavanagh syndrome

Preferred Label : reardon wilson cavanagh syndrome;

MeSH synonym : familial ataxia, deafness, and developmental delay; ataxia, hearing loss, and mental retardation; ataxia-deafness-retardation syndrome;

Détails

Origin ID

C535295;

UMLS CUI

C0796045;

Automatic exact mappings (from CISMeF team)
- Ataxia with deafness and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Congenital intrauterine infection-like syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ataxia-deafness-intellectual disability syndrome [ORDO Disease]
- Ataxia-deafness-retardation syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Reardon Wilson Cavanagh syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-deafness-intellectual disability syndrome [ORDO Disease]
- Ataxia-deafness-retardation syndrome [OMIM Phenotype]

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

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