nemaline myopathy

Preferred Label : nemaline myopathy;

Details

Origin ID

DA-51530;

UMLS CUI

C0206157;

Currated CISMeF NLP mapping
- Hereditary disorder of musculoskeletal system (disorder) [SNOMED CT concept]
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy [Disease (Nov.)]
- Nemaline myopathy [ICD-11 Sub-sub category]
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- myopathies, nemaline [MeSH Descriptor]
- myopathies, nemaline [MeSH concept]
- nemaline myopathy [DO Concept]
ICD-10 exact mapping(s)
- Congenital myopathies [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Amish nemaline myopathy [ORDO Disease]
- Childhood-onset nemaline myopathy [ORDO Disease]
- Intermediate nemaline myopathy [ORDO Disease]
- Severe congenital nemaline myopathy [ORDO Disease]
- Typical nemaline myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Congenital myopathy with protein accumulation [ORDO Disease]
- Qualitative or quantitative defects of nebulin [ORDO Disease]
Metaterm(s)
- neurology [CISMeF Metaterm]
SNOMED CT concept
- Nemaline myopathy (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Centronuclear myopathy [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy [Disease (Nov.)]
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy [ICD-11 Sub-sub category]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- myopathies, nemaline [MeSH Descriptor]
- myopathies, nemaline [MeSH concept]
- nemaline myopathy [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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