Autosomal recessive hereditary disorder	Chronic brain syndrome	Hereditary disorder of nervous system	Progressive myoclonic epilepsy
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Progressive myoclonic epilepsy type 6 (disorder)
	Progressive myoclonic epilepsy type 6
	GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 - progressive myoclonic epilepsy type 6 GOSR2-related progressive myoclonus ataxia Progressive myoclonus epilepsy type 6
	A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21.
	progressieve myoklonische epilepsie type 6
	PME type 6 progressieve myoclonusepilepsie type 6

Id	783062001
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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified