Bethlem Myopathy 1

Preferred Label : Bethlem Myopathy 1;

NCIt synonyms : BTHLM1;

NCIt definition : A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.;

Details

Origin ID

C126688;

UMLS CUI

C1834674;

CISMeF manual mappings
- bethlem myopathy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bethlem myopathy [ORDO Disease]
- Bethlem myopathy [DO Concept]
- Bethlem myopathy [Disease (Nov.)]
- Bethlem myopathy (disorder) [SNOMED CT concept]
- Bethlem myopathy 1a [OMIM Phenotype]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bethlem myopathy [ORDO Disease]
- Bethlem myopathy [DO Concept]
- Bethlem myopathy [MeSH concept]
- Bethlem myopathy [Disease (Nov.)]
- Bethlem myopathy (disorder) [SNOMED CT concept]
- Bethlem myopathy 1a [OMIM Phenotype]
- bethlem myopathy [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Bethlem myopathy [OMIM phenotypic series]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

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