| syndroom van foveale hypoplasie en preseniel cataract (aandoening) | | syndroom van foveale hypoplasie en preseniel cataract | | Foveal hypoplasia with presenile cataract syndrome | | O'Donnell Pappas syndrome
| | A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13. |
| | Id | 778042000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H26.0 | | Term | Infantiel, juveniel en preseniel cataract |
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| SNOMED CT to Orphanet simple map | 2253 |
| SNOMED CT to ICD-10 extended map | | Target | H26.0 | | Rule | TRUE | | Advice | ALWAYS H26.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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