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congenitale myopathie met vezeltypedisproportie door mutatie van ZAK (aandoening)
congenitale myopathie met vezeltypedisproportie door mutatie van ZAK
autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van ZAK
CFTDM door ZAK-mutatie
Congenital fiber-type disproportion myopathy due to ZAK mutation
CNM6 - centronuclear myopathy 6
A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
Id1201964008
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