Nemaline Myopathy 3

Preferred Label : Nemaline Myopathy 3;

NCIt synonyms : NEM3;

NCIt definition : An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.;

Details

Origin ID

C129870;

UMLS CUI

C3711389;

Automatic exact mappings (from CISMeF team)
- actin alpha 1, skeletal muscle [ORDO Gene]
Currated CISMeF NLP mapping
- Actin accumulation myopathy (disorder) [SNOMED CT concept]
- Actin-Accumulation myopathy [MeSH concept]
- Actin-Accumulation myopathy [MeSH Supplementary 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]
- myopathy, actin, congenital, with excess of thin myofilaments [MeSH Supplementary Concept]
- nemaline myopathy 3 [DO Concept]
- nemaline myopathy 3, with intranuclear rods [MeSH concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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]
- myopathy, actin, congenital, with excess of thin myofilaments [MeSH Supplementary Concept]
- nemaline myopathy 3 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- ACTA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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