Congenital Fiber-Type Disproportion

Preferred Label : Congenital Fiber-Type Disproportion;

NCIt synonyms : Congenital Fiber-Type Disproportion Myopathy;

NCIt definition : A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.;

Details

Origin ID

C120046;

UMLS CUI

C0546264;

Currated CISMeF NLP mapping
- 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 [SNOMED Notion]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [SNOMED Notion]
- congenital fiber type disproportion myopathy [Disease (Nov.)]
- congenital fiber-type disproportion [DO Concept]
Validated automatic mappings to NTBT
- myopathies, structural, congenital [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
related_to_genetic_biomarker
- ACTA1 Gene [NCIt concept]
- RYR1 Gene [NCIt concept]
- TPM3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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