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syndroom van corticale dysplasie en focale epilepsie (aandoening)
syndroom van corticale dysplasie en focale epilepsie
syndroom van corticale dysplasie en lokalisatiegebonden epilepsie
Cortical dysplasia with focal epilepsy syndrome
CDFE (cortical dysplasia focal epilepsy) syndrome
A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.
Id771142009
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cortex cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified