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defect van vesiculair transport van dopamine en serotonine in hersenen (aandoening)
defect van vesiculair transport van dopamine en serotonine in hersenen
brain dopamine-serotonin vesicular transport disease
Brain dopamine-serotonin vesicular transport disease
An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner.
Id717942003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG25.8
RuleTRUE
AdviceALWAYS G25.8
CorrelationSNOMED CT source code to target map code correlation not specified