| 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. |
| | Id | 715768000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G24.1 | | Term | Idiopathische familiale dystonie |
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| SNOMED CT to Orphanet simple map | 98808 |
| SNOMED CT to ICD-10 extended map | | 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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