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Autosomal dominant dopa responsive dystonia (disorder)
Autosomal dominant dopa responsive dystonia
Hereditary progressive dystonia with marked diurnal fluctuation
Autosomal dominant Segawa syndrome
A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.
autosomaal dominante L-doparesponsieve dystonie
autosomaal dominante ziekte van Segawa
autosomaal dominante doparesponsieve dystonie
Id715768000
StatusPrimitive
InterpretsMovement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1
CorrelationSNOMED CT source code to target map code correlation not specified