autosomaal recessieve hereditaire aandoening	chronische encefalopathie	chronische myelopathie	chronische stoornis van metabolisme	mitochondriale cytopathie	progressieve myoklonische epilepsie	spinocerebellaire ataxie
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syndroom van vroeg optredende spastische ataxie, myoklonische epilepsie en neuropathie (aandoening)
	syndroom van vroeg optredende spastische ataxie, myoklonische epilepsie en neuropathie
	syndroom van AFG3L2-geassocieerde spastische ataxie, myoklonische epilepsie en neuropathie SPAX5 autosomaal recessieve spastische ataxie type 5 syndroom van vroeg optredende spastische ataxie, myoclonusepilepsie en neuropathie
	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
	Autosomal recessive spastic ataxia type 5 AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
	A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.

Id	771469002
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van medulla spinalis
Occurrence	kinderleeftijd

Finding site	structuur van cerebrum
Occurrence	kinderleeftijd

Clinical course

Associated morphology	degeneratieve afwijking
Finding site	structuur van cerebellum
Occurrence	kinderleeftijd

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.4
Term	Hereditaire spastische paraplegie

Target	G40.3
Term	Gegeneraliseerde idiopathische epilepsie en epileptische syndromen

Target	G60.0
Term	Hereditaire motorische en sensorische neuropathie

SNOMED CT to Orphanet simple map

313772

SNOMED CT to ICD-10 extended map

Target	G11.4
Rule	TRUE
Advice	ALWAYS G11.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

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

Target	G60.0
Rule	TRUE
Advice	ALWAYS G60.0
Correlation	SNOMED CT source code to target map code correlation not specified