| progressieve polyneuropathie met bilaterale striatale necrose (aandoening) | | progressieve polyneuropathie met bilaterale striatale necrose | | Progressive polyneuropathy with bilateral striatal necrosis | | A rare genetic disorder of thiamine metabolism and transport with characteristics of the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Caused by homozygous mutation in the SLC25A19 gene on chromosome 17q25. |
| | Id | 771305006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G60.8 | | Term | Overige gespecificeerde hereditaire en idiopathische neuropathieën |
| Target | G23.8 | | Term | Overige gespecificeerde degeneratieve ziekten van basale ganglia |
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| SNOMED CT to Orphanet simple map | 217396 |
| SNOMED CT to ICD-10 extended map | | Target | G60.8 | | Rule | TRUE | | Advice | ALWAYS G60.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | G23.8 | | Rule | TRUE | | Advice | ALWAYS G23.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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