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lissencefalie door tubuline-alfa-1A-mutatie (aandoening)
lissencefalie door tubuline-alfa-1A-mutatie
lissencefalie door TUBA1A-mutatie
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
Lissencephaly due to tubulin alpha 1A mutation
A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Id718759003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified