myopathy, actin, congenital, with excess of thin myofilaments

Preferred Label : myopathy, actin, congenital, with excess of thin myofilaments;

MeSH note : PROM mutation in ACTA1;

Origin ID

C563529;

UMLS CUI

C3711389;

CISMeF manual mappings
- Congenital myopathy with excess of thin filaments [ORDO Disease]
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 [ICD-11 More detail]
- Nemaline Myopathy 3 [NCIt concept]
- nemaline myopathy 3 [DO Concept]
DO Cross reference
- Van der Woude syndrome [DO Concept]
MeSH term(s) associated for indexing
- myopathies, nemaline [MeSH Descriptor]
Record concept(s)
- myopathy, actin, congenital, with excess of thin myofilaments [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 [ICD-11 More detail]
- Nemaline Myopathy 3 [NCIt concept]