| progressieve retinale dystrofie door retinoltransportdefect (aandoening) | | progressieve retinale dystrofie door retinoltransportdefect | | progressieve retinale dystrofie door transporteffect van vitamine A
| | Progressive retinal dystrophy due to retinol transport defect | | Retinol dystrophy, iris coloboma, comedogenic acne syndrome
| | A rare genetic metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. |
| | Id | 773576000 | | 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 | 352718 |
| SNOMED CT to ICD-10 extended map | | Target | H35.5 | | Rule | TRUE | | Advice | ALWAYS H35.5 | 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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