Stargardt Disease

Preferred Label : Stargardt Disease;

NCIt definition : An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision.;

Details

Origin ID

C85078;

UMLS CUI

C0271093;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 4 [ORDO Gene]
- ATP binding cassette subfamily A member 4 [HGNC gene]
- Hereditary retinal dystrophy [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Fundus flavimaculatus [PASCAL descriptor]
- Fundus flavimaculatus (disorder) [SNOMED CT concept]
- Stargardt Disease [MeSH concept]
- Stargardt Disease [MeSH Descriptor]
- Stargardt chorioretinal degeneration [PASCAL descriptor]
- Stargardt disease [DO Concept]
- Stargardt disease [Disease (Nov.)]
- Stargardt disease [ICD-11 More detail]
- Stargardt disease [ORDO Disease]
- Stargardt's disease [MedDRA Preferred Term]
- Stargardt's disease (disorder) [Inactive SNOMED CT concept]
- Stargardt's disease (disorder) [Inactive SNOMED CT concept]
- Stargardt's disease (disorder) [SNOMED CT concept]
- fundus flavimaculatus [SNOMED Notion]
- stargardt's disease [SNOMED Notion]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fundus flavimaculatus (disorder) [SNOMED CT concept]
- Stargardt Disease [MeSH Descriptor]
- Stargardt disease [Disease (Nov.)]
- Stargardt's disease [MedDRA Preferred Term]
- Stargardt's disease (disorder) [SNOMED CT concept]
- flavimacular retinopathy [Disease (Nov.)]
- fundus flavimaculatus [SNOMED Notion]
- stargardt's disease [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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