| 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. |
| | Id | 1236805005 | | Status | Primitive |
| 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 |
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