| retinadystrofie met functiestoornis van binnenste retinalaag en afwijking van ganglioncellen (aandoening) | | retinadystrofie met functiestoornis van binnenste retinalaag en afwijking van ganglioncellen | | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | | Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
| | A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. |
| | Id | 774152007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H35.5 | | Term | Hereditaire retinadystrofie |
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| SNOMED CT to Orphanet simple map | 397758 |
| SNOMED CT to ICD-10 extended map | | Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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