| dystonie met parkinsonisme beginnend op volwassen leeftijd (aandoening) | | dystonie met parkinsonisme beginnend op volwassen leeftijd | | dystonie-parkinsonisme type Paisan-Ruiz
| | Adult-onset dystonia parkinsonism | | Dystonia parkinsonism Paisan-Ruiz type
PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism
| | A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G24.1 | | Term | Idiopathische familiale dystonie |
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| SNOMED CT to Orphanet simple map | 199351 |
| SNOMED CT to ICD-10 extended map | | Target | G24.1 | | Rule | TRUE | | Advice | ALWAYS G24.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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