myotubular myopathy

Preferred Label : myotubular myopathy;

Details

Origin ID

DA-51520;

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]
- Myotubular myopathy [PASCAL descriptor]
- Myotubular myopathy (disorder) [SNOMED CT concept]
- centronuclear myopathy [DO Concept]
- centronuclear myopathy [MeSH concept]
- myopathies, structural, congenital [MeSH Descriptor]
- myotubular myopathy [Disease (Nov.)]
ICD-10 exact mapping(s)
- Congenital myopathies [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- X-linked centronuclear myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Congenital myopathy with central nuclei [ORDO Disease]
Metaterm(s)
- neurology [CISMeF Metaterm]
SNOMED CT concept
- Myotubular myopathy (disorder) [SNOMED CT concept]
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 [MeSH concept]
- centronuclear myopathy [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

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