hereditaire aandoening van zenuwstelsel
hereditaire ontwikkelingsstoornis
lissencefalie type 1
X-gebonden hereditaire aandoening
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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
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.
Id715780008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
SNOMED CT to Orphanet simple map2148
SNOMED CT to ICD-10 extended map
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