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lissencefalie type 1 door mutatie van 'doublecortin'-gen (aandoening)
lissencefalie type 1 door mutatie van 'doublecortin'-gen
X-gebonden lissencefalie type 1
lissencefalie type 1 door DCX-mutatie
Lissencephaly type 1 due to doublecortin gene mutation
X-linked lissencephaly type 1
A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations.
Id715780008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified