Congenital myopathy with excess of thin filaments

Preferred Label : Congenital myopathy with excess of thin filaments;

ICD-11 definition : Congenital myopathies marked by a morphological features of densely packed masses of thin filaments that occupy large areas of intracellular muscle fibres, which were shown by immunohistochemistry and immunoelectron microscopy to consist of actin.;

ICD-11 inclusion : Actin myopathy;

Details

Origin ID

1311513523;

UMLS CUI

C1834339;

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

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