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 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.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermIdiopathische familiale dystonie
SNOMED CT to Orphanet simple map98808
SNOMED CT to ICD-10 extended map
AdviceALWAYS G24.1
CorrelationSNOMED CT source code to target map code correlation not specified