cataract ataxia deafness

Preferred Label : cataract ataxia deafness;

MeSH synonym : cataract ataxia deafness syndrome; polyneuropathy, cataract, deafness syndrome; begeer syndrome; cataract-ataxia-deafness-retardation syndrome; Polyneuropathy-Cataract-Deafness syndrome;

Details

Origin ID

C538283;

UMLS CUI

C0796123;

Currated CISMeF NLP mapping
- Cataract - ataxia - deafness [ICD-11 More detail]
- Cataract-ataxia-deafness syndrome [ORDO Disease]
- Cataract-ataxia-deafness-retardation syndrome [OMIM Phenotype]
- Congenital cataract with ataxia and deafness syndrome (disorder) [SNOMED CT concept]
False automatic mappings
- General health good (finding) [SNOMED CT concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- cataract [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- peripheral nervous system diseases [MeSH Descriptor]
ORDO relation(s)
- Cataract-ataxia-deafness syndrome [ORDO Disease]
Record concept(s)
- Cataract ataxia deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract-ataxia-deafness syndrome [ORDO Disease]
- Cataract-ataxia-deafness-retardation syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients