Congenital fibre type disproportion

Preferred Label : Congenital fibre type disproportion;

ICD-11 definition : Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life, which is non- or slowly progressive.;

CISMeF acronym : CFTDM;

Details

Origin ID

311083557;

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 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 myopathy [SNOMED Notion]
- congenital fiber-type disproportion [DO Concept]
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 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 myopathy [SNOMED Notion]
- congenital fiber-type disproportion [DO Concept]
Validated automatic mappings to NTBT
- myopathies, structural, congenital [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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