Late-Onset retinal degeneration

Preferred Label : Late-Onset retinal degeneration;

Définition CISMeF : Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.;

MeSH synonym : retinal degeneration, Late-Onset, autosomal dominant;

Details

Origin ID

C565309;

UMLS CUI

C1854065;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant late-onset retinal degeneration [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal dominant late-onset retinal degeneration (disorder) [SNOMED CT concept]
- Late-onset retinal degeneration [OMIM Phenotype]
- Late-onset retinal degeneration [ORDO Disease]
- late-onset retinal degeneration [DO Concept]
Manual NTBT mappings (CISMeF)
- autosomal retinal degeneration [Disease (Nov.)]
MeSH term(s) associated for indexing
- retinal degeneration [MeSH Descriptor]
Record concept(s)
- Late-Onset retinal degeneration [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant late-onset retinal degeneration (disorder) [SNOMED CT concept]
- Late-Onset Retinal Degeneration [NCIt concept]
- Late-onset retinal degeneration [OMIM Phenotype]
- Late-onset retinal degeneration [ORDO Disease]
- late-onset retinal degeneration [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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