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
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| Id | 715768000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | G24.1 | Rule | TRUE | Advice | ALWAYS G24.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
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