Acquired ataxia	Autosomal recessive hereditary disorder	Childhood seizure	Chronic brain syndrome	Chronic metabolic disorder	Extrapyramidal disease	Hereditary metabolic disease	Mitochondrial cytopathy	Progressive myoclonic epilepsy	Spinal cord myoclonus	Spinocerebellar ataxia
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Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)
	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.
	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

Id	771469002
Status	Primitive

Associated morphology	Degenerative abnormality
Finding site	Spinal cord structure
Occurrence	Childhood

Finding site	Cerebrum
Occurrence	Childhood

Clinical course

Associated morphology	Degenerative abnormality
Finding site	Cerebellar structure
Occurrence	Childhood

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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