Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) | | Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation | | Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
| | A rare autosomal recessive 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). |
| Id | 1208414002 | Status | Defined |
ICD-10 complex map reference set | Target | G71.2 | Rule | TRUE | Advice | ALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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