| Kufor-Rakeb-syndroom (aandoening) | | Kufor-Rakeb-syndroom | | syndroom van Kufor-Rakeb
| | Kufor Rakeb syndrome | | PARK9 - Parkinson disease 9
Parkinson disease 9
| | A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia. |
| | Id | 723992000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G23.0 | | Term | Ziekte van Hallervorden-Spatz |
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| SNOMED CT to Orphanet simple map | 306674 |
| SNOMED CT to ICD-10 extended map | | Target | G23.0 | | Rule | TRUE | | Advice | ALWAYS G23.0 | 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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