Distal Muscular Dystrophy

Preferred Label : Distal Muscular Dystrophy;

NCIt synonyms : Distal Myopathy;

NCIt definition : A group of genetic degenerative muscle disorders affecting the muscles of the lower arms, hands, lower legs, and feet.;

Details

Origin ID

C84675;

UMLS CUI

C0751336;

Automatic exact mappings (from CISMeF team)
- Muscular dystrophy [ICD-10 Sub-category]
- Myopathy, distal [OMIM phenotypic series]
- distal myopathy [DO Concept]
Currated CISMeF NLP mapping
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Distal myopathies [ICD-11 Category]
- Distal myopathy [ORDO Disease]
- distal myopathies [Disease (Nov.)]
- distal myopathies [MeSH Descriptor]
- distal myopathies [MeSH concept]
DO Cross reference
- distal myopathy [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Distal myopathy [ORDO Disease]
- distal myopathies [Disease (Nov.)]
- distal myopathies [MeSH concept]
- distal myopathies [MeSH Descriptor]
- distal myopathy [DO Concept]
associated_with_malfunction_of_gene_product
- Dysferlin [NCIt concept]
disease_has_associated_gene
- DYSF Gene [NCIt concept]
- DYSF wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

Keyword's position in hierarchy(ies) :

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