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infantiele dystonie met parkinsonisme (aandoening)
infantiele dystonie met parkinsonisme
Dopamine transporter deficiency syndrome
Parkinsonism-dystonia infantile
Infantile dystonia parkinsonism
An extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. The prevalence is unknown. The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism, dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission. Inherited in an autosomal recessive manner.
Id722763000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG24.8
RuleTRUE
AdviceALWAYS G24.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified