Neuropathy ataxia and retinitis pigmentosa

Preferred Label : Neuropathy ataxia and retinitis pigmentosa;

CISMeF synonym : Neuropathy ataxia and retinis pigmentosa;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0531857;

UMLS CUI

C1328349;

Automatic exact mappings (from CISMeF team)
- NARP syndrome [DO Concept]
- Neuropathy, ataxia, and retinitis pigmentosa [ICD-11 Subcategory]
CISMeF manual mappings
- Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- NARP syndrome [ORDO Disease]
- Neuropathy, ataxia, and retinitis pigmentosa [OMIM Phenotype]
- Neuropathy, ataxia, retinitis pigmentosa syndrome [MedDRA Preferred Term]
Related record
- Neuropathy ataxia and retinitis pigmentosa [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NARP syndrome [ORDO Disease]
- NARP syndrome [DO Concept]
- Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) [SNOMED CT concept]
- Neuropathy, ataxia, and retinitis pigmentosa [OMIM Phenotype]
- Neuropathy, ataxia, retinitis pigmentosa syndrome [MedDRA Preferred Term]

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