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geïsoleerde focale corticale dysplasie (aandoening)
geïsoleerde focale corticale dysplasie
Isolated focal cortical dysplasia
A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (for example abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.
Id766710005
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cortex cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.8
TermOverige gespecificeerde congenitale misvormingen van hersenen
SNOMED CT to Orphanet simple map65683
SNOMED CT to ICD-10 extended map
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8
CorrelationSNOMED CT source code to target map code correlation not specified