Congenital Structural Myopathy

Preferred Label : Congenital Structural Myopathy;

NCIt synonyms : Centronuclear Myopathy;

NCIt definition : A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.;

Details

Origin ID

C84648;

UMLS CUI

C0752282;

Currated CISMeF NLP mapping
- Centronuclear myopathy [ORDO Disease]
- Myopathy, centronuclear [OMIM phenotypic series]
- Myotubular myopathy [PASCAL descriptor]
- Myotubular myopathy (disorder) [SNOMED CT concept]
- centronuclear myopathy [DO Concept]
- centronuclear myopathy [MeSH concept]
- congenital structural myopathies [Disease (Nov.)]
- congenital structural myopathy [DO Concept]
- myopathies, structural, congenital [MeSH Descriptor]
- myopathies, structural, congenital [MeSH concept]
- myotubular myopathy [SNOMED Notion]
DO Cross reference
- centronuclear myopathy [DO Concept]
- congenital structural myopathy [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)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital structural myopathies [Disease (Nov.)]
- congenital structural myopathy [DO Concept]
- myopathies, structural, congenital [MeSH Descriptor]
- myopathies, structural, congenital [MeSH concept]
Validated automatic mappings to BTNT
- Centronuclear myopathy [ICD-11 Sub-sub category]
- myotubular myopathy [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients