nemaline myopathy 3, with intranuclear rods - CISMeF

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CISMeF

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Nemaline myopathy 3, with intranuclear rodsMeSH concept

Preferred Label : nemaline myopathy 3, with intranuclear rods;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0567992;

UMLS CUI

C2750536;

Currated CISMeF NLP mapping
- Actin accumulation myopathy (disorder) [SNOMED CT concept]
- Congenital myopathy 2a, typical, autosomal dominant [OMIM Phenotype]
- Congenital myopathy with excess of thin filaments [ORDO Disease]
- Congenital myopathy with excess of thin filaments [ICD-11 More detail]
- Nemaline Myopathy 3 [NCIt concept]
- nemaline myopathy 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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03/05/2025

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