aandoening van basale ganglia	autosomaal recessieve hereditaire aandoening	chronische encefalopathie	chronische stoornis van metabolisme	gegeneraliseerde dystonie	hereditaire opticusatrofie	hereditaire stoornis van metabolisme van zenuwstelsel	mitochondriale cytopathie
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mitochondriaal enoyl-coenzym-A-reductase-eiwit-geassocieerd neurodegeneratiesyndroom (aandoening)
	MEPAN-syndroom
	mitochondrieel enoyl-CoA-reductase-proteïne-geassocieerd neurodegeneratiesyndroom mitochondriaal enoyl-coenzym-A-reductase-eiwit-geassocieerd neurodegeneratiesyndroom syndroom van gegeneraliseerde dystonie en opticusatrofie beginnend op kinderleeftijd
	MEPAN syndrome
	Autosomal recessive childhood-onset dystonia DYT29 type Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome DYT29 - dystonia 29 Childhood-onset generalized dystonia, optic atrophy syndrome
	A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.

Id	1236805005
Status	Primitive

Interprets

Occurrence

Finding site

structuur van basaal ganglion

Associated morphology	primaire atrofie
Finding site	structuur van nervus opticus

Clinical course

chronisch persisterend

SNOMED CT to Orphanet simple map

508093

SNOMED CT to ICD-10 extended map

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified