centronuclear myopathy

Preferred Label : centronuclear myopathy;

CISMeF synonym : Myotubular Myopathy;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0335640;

UMLS CUI

C0175709;

Automatic exact mappings (from CISMeF team)
- X-linked centronuclear myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Centronuclear myopathy [ICD-11 Sub-sub category]
- Centronuclear myopathy [ORDO Disease]
- Centronuclear myopathy (disorder) [Inactive SNOMED CT concept]
- Congenital Structural Myopathy [NCIt concept]
- Hereditary disorder of musculoskeletal system (disorder) [SNOMED CT concept]
- Myopathy, centronuclear [OMIM phenotypic series]
- Myotubular myopathy [PASCAL descriptor]
- Myotubular myopathy (disorder) [SNOMED CT concept]
- centronuclear myopathy [DO Concept]
- myotubular myopathy [Disease (Nov.)]
- myotubular myopathy [SNOMED Notion]
Related record
- myopathies, structural, congenital [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Centronuclear myopathy [ORDO Disease]
- Centronuclear myopathy [ICD-11 Sub-sub category]
- Centronuclear myopathy [MedDRA LLT]
- Myotubular myopathy (disorder) [SNOMED CT concept]
- centronuclear myopathy [DO Concept]
- myotubular myopathy [SNOMED Notion]
Validated automatic mappings to BTNT
- X-linked centronuclear myopathy [ORDO Disease]