autosomaal dominante hereditaire aandoening	congenitale hypoplasie van fovea centralis	congenitale nystagmus	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	preseniel cataract
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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 characterized by 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.

Id	778042000
Status	Primitive

Associated morphology	hypoplasie
Finding site	structuur van fovea centralis
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

observatie betreffende oogbeweging

Associated morphology	troebeling
Finding site	structuur van lens cristallina

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

SNOMED CT to Orphanet simple map

2253

SNOMED CT to ICD-10 extended map

Target	H26.0
Rule	TRUE
Advice	ALWAYS H26.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified