furukawa takagi nakao syndrome

Preferred Label : furukawa takagi nakao syndrome;

MeSH note : Hereditary muscular atrophy with ataxia, retinitis pigmentosa, and diabetes mellitus;

Details

Origin ID

C538193;

UMLS CUI

C2931765;

Currated CISMeF NLP mapping
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus [OMIM Phenotype]
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder) [SNOMED CT concept]
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- muscular atrophy [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
ORDO relation(s)
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome [ORDO Disease]
Record concept(s)
- Furukawa Takagi Nakao syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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