autosomaal recessieve hereditaire aandoening	chronische encefalopathie	hereditaire aandoening van zenuwstelsel	progressieve myoklonische epilepsie
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progressieve myoklonische epilepsie type 8 (aandoening)
	progressieve myoklonische epilepsie type 8
	PME type 8 progressieve myoclonusepilepsie type 8
	Progressive myoclonic epilepsy type 8
	Progressive myoclonus epilepsy type 8 Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency PME (progressive myoclonic epilepsy) type 8 Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency
	A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.

Id	783139000
Status	Primitive

Clinical course

Finding site

structuur van cerebrum

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G40.3
Term	Gegeneraliseerde idiopathische epilepsie en epileptische syndromen

SNOMED CT to Orphanet simple map

424027

SNOMED CT to ICD-10 extended map

Target	G40.3
Rule	TRUE
Advice	ALWAYS G40.3
Correlation	SNOMED CT source code to target map code correlation not specified