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progressieve myoklonische epilepsie type 3 (aandoening)
progressieve myoklonische epilepsie type 3
progressieve myoclonusepilepsie type 3
PME type 3
Progressive myoclonic epilepsy type 3
PME type 3 - progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.
Id783064000
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified