Autosomal recessive hereditary disorder	Chronic brain syndrome	Hereditary disorder of nervous system	Progressive myoclonic epilepsy
\|	\|	\|	\|

Progressive myoclonic epilepsy type 8 (disorder)
	Progressive myoclonic epilepsy type 8
	PME type 8 - progressive myoclonic epilepsy type 8 Progressive myoclonus epilepsy type 8 Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency 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. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12.
	progressieve myoklonische epilepsie type 8
	progressieve myoclonusepilepsie type 8 PME type 8

Id	783139000
Status	Primitive

Clinical course

Finding site

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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