Exfoliation Syndrome

Preferred Label : Exfoliation Syndrome;

NCIt synonyms : Exfoliation Glaucoma; XFS; XFG;

NCIt definition : An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.;

Details

Origin ID

C129025;

UMLS CUI

C0206368;

Currated CISMeF NLP mapping
- Exfoliation glaucoma [MedDRA Preferred Term]
- Exfoliation syndrome [MedDRA Preferred Term]
- Exfoliation syndrome [OMIM Phenotype]
- Pseudoexfoliation glaucoma [MedDRA LLT]
- Pseudoexfoliation glaucoma [ICD-9 code]
- Pseudoexfoliation glaucoma (disorder) [SNOMED CT concept]
- Pseudoexfoliation syndrome [MedDRA LLT]
- Pseudoexfoliative open-angle glaucoma [ICD-11 Sub-sub category]
- exfoliation syndrome [DO Concept]
- exfoliation syndrome [MeSH concept]
- exfoliation syndrome [MeSH Descriptor]
- pseudoexfoliation glaucoma [SNOMED Notion]
- pseudoexfoliation syndrome [Disease (Nov.)]
DO Cross reference
- exfoliation syndrome [DO Concept]
See also inter- (CISMeF)
- Pseudoexfoliation of lens capsule (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exfoliation glaucoma [MedDRA Preferred Term]
- Exfoliation syndrome [OMIM Phenotype]
- Exfoliation syndrome [MedDRA Preferred Term]
- Pseudoexfoliation glaucoma [ICD-9 code]
- Pseudoexfoliation glaucoma [MedDRA LLT]
- Pseudoexfoliation glaucoma (disorder) [SNOMED CT concept]
- Pseudoexfoliation syndrome [MedDRA LLT]
- exfoliation syndrome [DO Concept]
- exfoliation syndrome [MeSH Descriptor]
- exfoliation syndrome [MeSH concept]
- pseudoexfoliation glaucoma [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LOXL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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