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autosomaal dominante L-doparesponsieve dystonie (aandoening)
autosomaal dominante L-doparesponsieve dystonie
autosomaal dominante doparesponsieve dystonie
autosomaal dominante ziekte van Segawa
Autosomal dominant dopa responsive dystonia
Hereditary progressive dystonia with marked diurnal fluctuation
Autosomal dominant Segawa syndrome
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
Id715768000
StatusPrimitive
InterpretsMovement
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG24.1
TermIdiopathische familiale dystonie
SNOMED CT to Orphanet simple map98808
SNOMED CT to ICD-10 extended map
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified