congenital fiber type disproportion myopathy - CISMeF

" /> congenital fiber type disproportion myopathy - CISMeF

CISMeF

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Congenital fiber type disproportion myopathySNOMED Notion

Preferred Label : congenital fiber type disproportion myopathy;

Details

Origin ID

DA-51512;

UMLS CUI

C0546264;

Currated CISMeF NLP mapping
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fiber type disproportion myopathy [PASCAL descriptor]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy 4a, autosomal dominant [OMIM Phenotype]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- congenital fiber type disproportion [MeSH concept]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]
- myopathies, structural, congenital [MeSH Descriptor]
ICD-10 exact mapping(s)
- Congenital myopathies [ICD-10 Sub-category (who)]
Metaterm(s)
- neurology [CISMeF Metaterm]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Fiber-Type Disproportion [NCIt concept]
- Congenital fiber-type disproportion myopathy [ORDO Disease]
- Congenital fibre type disproportion [ICD-11 More detail]
- Congenital myopathy 4a, autosomal dominant [OMIM Phenotype]
- Congenital myopathy with fiber type disproportion (disorder) [SNOMED CT concept]
- congenital fiber type disproportion [MeSH concept]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]

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03/05/2025

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