Exfoliation syndrome

Preferred Label : Exfoliation syndrome;

Symbol : XFS;

CISMeF acronym : PEXG; PEXS; XFG; XFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudoexfoliation of the lens; PEXG; PEXS; Exfoliation glaucoma; Pseudoexfoliation glaucoma; Pseudoexfoliation syndrome; XFG;

Description : Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (Schlotzer-Schrehardt and Naumann, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the lysyl oxidase-like 1 gene (LOXL1, 153456.0001);

Prefixed ID : #177650;

Details

Origin ID

177650;

UMLS CUI

C0206368;

Automatic exact mappings (from CISMeF team)
- Capsular glaucoma [PASCAL descriptor]
- Lens pseudoexfoliation [PASCAL descriptor]
- fixation, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Exfoliation Syndrome [NCIt concept]
- Exfoliation glaucoma [MedDRA Preferred Term]
- Exfoliation syndrome [MedDRA Preferred Term]
- 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 Descriptor]
- exfoliation syndrome [MeSH concept]
- pseudoexfoliation glaucoma [SNOMED Notion]
- pseudoexfoliation syndrome [Disease (Nov.)]
DO Cross reference
- exfoliation syndrome [DO Concept]
False automatic mappings
- 72 kDa Type IV Collagenase [NCIt concept]
- Pseudoexfoliation of lens capsule (disorder) [SNOMED CT concept]
Genes related to phenotype
- Lysyl oxidase-like 1 [OMIM gene]
HPO term(s)
- Abnormality of the lens [HPO term]
- Anisocoria [HPO term]
- Asymmetry of intraocular pressure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Glaucoma [HPO term]
- Iris hypoperfusion [HPO term]
- Lens subluxation [HPO term]
- Mydriasis [HPO term]
- Phakodonesis [HPO term]
- Pigment deposition in the trabecular meshwork [HPO term]
- Pseudoexfoliation [HPO term]
- Retinal vein occlusion [HPO term]
- Rigidity [HPO term]
See also inter- (CISMeF)
- Pseudoexfoliation glaucoma (disorder) [SNOMED CT concept]
- pseudoexfoliation glaucoma [SNOMED Notion]
- pseudoexfoliation syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exfoliation Syndrome [NCIt concept]
- Exfoliation glaucoma [MedDRA Preferred Term]
- Exfoliation syndrome [MedDRA Preferred Term]
- Pseudoexfoliation glaucoma [MedDRA LLT]
- Pseudoexfoliation glaucoma [ICD-9 code]
- Pseudoexfoliation glaucoma (disorder) [SNOMED CT concept]
- Pseudoexfoliation syndrome [MedDRA LLT]
- exfoliation syndrome [MeSH Descriptor]
- exfoliation syndrome [MeSH concept]
- exfoliation syndrome [DO Concept]
- pseudoexfoliation glaucoma [SNOMED Notion]
Validated automatic mappings to NTBT
- Pseudoexfoliation glaucoma [MedDRA LLT]

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