nemaline myopathy 3, with intranuclear rods

Preferred Label : nemaline myopathy 3, with intranuclear rods;

UMLS semantic type : T047 - Disease or Syndrome;

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]
Related record
- Actin-Accumulation myopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]