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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 with characteristics of 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.
Id1236805005
StatusPrimitive
InterpretsMovement
Occurrencecongenitaal
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Clinical coursechronisch persisterend
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified