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.
Associated morphologyhypoplasie
Finding sitestructuur van fovea centralis
Pathological processproces van pathologische ontwikkeling
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermInfantiel, juveniel en preseniel cataract
SNOMED CT to Orphanet simple map2253
SNOMED CT to ICD-10 extended map
AdviceALWAYS H26.0
CorrelationSNOMED CT source code to target map code correlation not specified