autosomaal recessieve motorneuronziekte	chronische encefalopathie	progressieve myoklonische epilepsie	spinale spieratrofie
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syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie (aandoening)
	syndroom van spinale musculaire atrofie met progressieve myoklonische epilepsie
	syndroom van erfelijke myoclonus met progressieve distale musculaire atrofie syndroom van hereditaire myoklonie met progressieve distale spieratrofie syndroom van Jankovic-Rivera
	Spinal muscular atrophy with progressive myoclonic epilepsy
	Jankovic-Rivera syndrome Hereditary myoclonus with progressive distal muscular atrophy

Id	703524005
Status	Primitive

Finding site

structuur van encephalon

Clinical course

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G25.3
Term	Myoclonus

Target	G12.2
Term	Ziekte van motorische neuronen

Target	G40.3
Term	Gegeneraliseerde idiopathische epilepsie en epileptische syndromen

SNOMED CT to Orphanet simple map

2590

SNOMED CT to ICD-10 extended map

Target	G25.3
Rule	TRUE
Advice	ALWAYS G25.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G12.1
Rule	TRUE
Advice	ALWAYS G12.1
Correlation	SNOMED CT source code to target map code correlation not specified