Autosomal dominant hereditary disorder
Congenital fiber-type disproportion myopathy due to ACTA1 mutation
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Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)
Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).
Id1208415001
StatusDefined
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified