| autosomaal dominante striatale neurodegeneratie (aandoening) | | autosomaal dominante striatale neurodegeneratie | | ADSD
| | Autosomal dominant striatal neurodegeneration | | ADSD - autosomal dominant striatal neurodegeneration
| | An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family. |
| | Id | 725392005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G31.8 | | Term | Overige gespecificeerde degeneratieve ziekten van zenuwstelsel |
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| SNOMED CT to Orphanet simple map | 228169 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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