| lissencefalie type 1 door mutatie van 'doublecortin'-gen (aandoening) | | lissencefalie type 1 door mutatie van 'doublecortin'-gen | | lissencefalie type 1 door DCX-mutatie
X-gebonden lissencefalie type 1
| | 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. |
| | Id | 715780008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.3 | | Term | Overige onderontwikkeling van hersenen |
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| SNOMED CT to Orphanet simple map | 2148 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.3 | | Rule | TRUE | | Advice | ALWAYS Q04.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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