| congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' (aandoening) | | congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' | | congenitale 'fiber-type disproportion myopathy' door mutatie van ACTA1
CFTDM door ACTA1-mutatie
| | Congenital fiber-type disproportion myopathy due to ACTA1 mutation | | Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
| | A rare genetic 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 | 1208413008 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | 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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