Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

Preferred Label : Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %158500;

Détails

Origin ID

158500;

UMLS CUI

C0342281;

Currated CISMeF NLP mapping
- Furukawa Takagi Nakao syndrome [MeSH concept]
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder) [SNOMED CT concept]
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome [ORDO Disease]
- furukawa takagi nakao syndrome [MeSH Supplementary Concept]
- muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus [MeSH concept]
- muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Rod-cone dystrophy [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder) [SNOMED CT concept]
- muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus [MeSH Supplementary Concept]
- muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus [MeSH concept]

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