Nemaline myopathy

ICD-11 code : 8C72.00;

Preferred Label : Nemaline myopathy;

ICD-11 definition : Nemaline myopathy encompasses a large spectrum of congenital myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.;

ICD-11 inclusion : nemaline body disease;

Details

Origin ID

1996502540;

UMLS CUI

C0206157;

Automatic exact mappings (from CISMeF team)
- Nemaline myopathy [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy [Disease (Nov.)]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- myopathies, nemaline [MeSH Descriptor]
- myopathies, nemaline [MeSH concept]
- nemaline myopathy [DO Concept]
- nemaline myopathy [SNOMED Notion]
ICD-10 Mapping
- Congenital myopathies [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline myopathy [Disease (Nov.)]
- Nemaline myopathy [ORDO Disease]
- Nemaline myopathy [PASCAL descriptor]
- Nemaline myopathy (disorder) [SNOMED CT concept]
- myopathies, nemaline [MeSH Descriptor]
- myopathies, nemaline [MeSH concept]
- nemaline myopathy [DO Concept]
- nemaline myopathy [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital myopathies [ICD-10 Sub-category]
- Hereditary disorder of musculoskeletal system (disorder) [SNOMED CT concept]

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