syndroom van corticale dysplasie en focale epilepsie (aandoening) DEPRECATED
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
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2023-02-28)
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 map163681