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Congenital fibre-type disproportion myopathy due to ACTA1 mutation
disorderSNOMED 1208413008CUI C5687101
Overview
Congenital fibre-type disproportion myopathy due to ACTA1 mutation is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Related Conditions
Autosomal recessive congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation(child)
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation(child)
Autosomal hereditary disorder(parent)
Congenital myopathy with fibre type disproportion(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 1208413008
- UMLS CUI
- C5687101
- Fully Specified Name
- Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.