| syndroom van vroeg optredende progressieve neurodegeneratie, blindheid, ataxie en spasticiteit (aandoening) | | syndroom van vroeg optredende progressieve neurodegeneratie, blindheid, ataxie en spasticiteit | | Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome | | A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. |
| | Id | 771514002 | | 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 | 352654 |
| 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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