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dystonie met parkinsonisme beginnend op volwassen leeftijd (aandoening)
dystonie met parkinsonisme beginnend op volwassen leeftijd
dystonie-parkinsonisme type Paisan-Ruiz
Adult-onset dystonia parkinsonism
PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism
Dystonia parkinsonism Paisan-Ruiz type
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.
Id720466001
StatusPrimitive
Occurrencevolwassenheid
referentieset met complexe 'mapping' naar ICD-10
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1
CorrelationSNOMED CT source code to target map code correlation not specified