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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).
Id1208413008
StatusPrimitive
SNOMED CT to ICD-10 extended map
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
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