Actin-Accumulation myopathy

Preferred Label : Actin-Accumulation myopathy;

MeSH synonym : actin myopathy; congenital myopathy with excess of thin filaments; actin filament aggregate myopathy; Nemaline myopathy caused by mutation in the alpha-actin gene; Nemaline myopathy 3;

Is substance : O;

Details

Origin ID

C579880;

UMLS CUI

C3711389;

CISMeF manual mappings
- Actin accumulation myopathy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 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]
MeSH term(s) associated for indexing
- myopathies, structural, congenital [MeSH Descriptor]
Record concept(s)
- Actin-Accumulation myopathy [MeSH concept]
- myopathy, actin, congenital, with cores [MeSH concept]
- nemaline myopathy 3, with intranuclear rods [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Actin accumulation myopathy (disorder) [SNOMED CT concept]
- Congenital myopathy 2a, typical, autosomal dominant [OMIM Phenotype]
- Congenital myopathy with excess of thin filaments [ORDO Disease]
- Nemaline Myopathy 3 [NCIt concept]
- nemaline myopathy 3 [DO Concept]

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