O'Donnell pappas syndrome

Preferred Label : O'Donnell pappas syndrome;

MeSH synonym : foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts; foveal hypoplasia, presenile cataract; foveal hypoplasia and presenile cataract syndrome;

Details

Origin ID

C537858;

UMLS CUI

C2931644;

Automatic exact mappings (from CISMeF team)
- Foveal hypoplasia 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Foveal hypoplasia with presenile cataract syndrome (disorder) [SNOMED CT concept]
- Foveal hypoplasia-presenile cataract syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- corneal dystrophies, hereditary [MeSH Descriptor]
- fovea centralis [MeSH Descriptor]
- nystagmus, congenital [MeSH Descriptor]
Record concept(s)
- O'Donnell Pappas syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Foveal hypoplasia with presenile cataract syndrome (disorder) [SNOMED CT concept]
- Foveal hypoplasia-presenile cataract syndrome [ORDO Disease]

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