Autosomal dominant hereditary disorder	Developmental hereditary disorder	Hereditary disorder of nervous system	Lissencephaly
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Lissencephaly due to tubulin alpha 1A mutation (disorder)
	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.
	lissencefalie door tubuline-alfa-1A-mutatie
	lissencefalie door TUBA1A-mutatie

Id	718759003
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified