enhanced S-Cone syndrome

Preferred Label : enhanced S-Cone syndrome;

MeSH note : mutation in NR2E3;

CISMeF synonym : Goldmann-Favre syndrome;

Related MeSH term : Retinoschisis with Early Hemeralopia; Favre Hyaloideoretinal Degeneration;

Details

Origin ID

C564835;

UMLS CUI

C1849394;

Automatic exact mappings (from CISMeF team)
- Goldmann-Favre syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Enhanced s-cone syndrome [OMIM Phenotype]
- Goldmann-Favre syndrome [ORDO Disease]
- Goldmann-Favre syndrome (disorder) [SNOMED CT concept]
- enhanced S-cone syndrome [DO Concept]
DO Cross reference
- enhanced S-cone syndrome [DO Concept]
MeSH term(s) associated for indexing
- eye diseases, hereditary [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
- vision disorders [MeSH Descriptor]
Record concept(s)
- Goldmann-Favre syndrome [MeSH concept]
- enhanced S-Cone syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Enhanced s-cone syndrome [OMIM Phenotype]
- enhanced S-cone syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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