Familial Exudative Vitreoretinopathies

Preferred Label : Familial Exudative Vitreoretinopathies;

MeSH definition : A group of inherited disorders characterized by incomplete development of the retinal vasculature. Its severity can vary from complete blindness in infancy, to mild or no visual problems, where small areas of vascular defects are observable only by FLUORESCEIN ANGIOGRAPHY. Exudative vitreoretinopathy 1 is associated with mutations in the FZD4 gene.;

MeSH synonym : Exudative Vitreoretinopathy, Familial; Vitreoretinopathy, Familial Exudative; Familial Exudative Vitreoretinopathy;

MeSH hyponym : X Linked Familial Exudative Vitreoretinopathy; XL-FEVR;

Details

Origin ID

D000080345;

UMLS CUI

C0339539;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- exudative vitreoretinopathy [DO Concept]
Currated CISMeF NLP mapping
- Familial exsudative vitreoretinopathy [PASCAL descriptor]
- Familial exudative vitreoretinopathy [ORDO Disease]
- Familial exudative vitreoretinopathy [ICD-11 More detail]
- Familial exudative vitreoretinopathy (disorder) [SNOMED CT concept]
- familial exudative vitreoretinopathy [Disease (Nov.)]
Record concept(s)
- Familial Exudative Vitreoretinopathies [MeSH concept]
- X-Linked Familial Exudative Vitreoretinopathy [MeSH concept]
Related MeSH Supplementary Concept(s)
- exudative vitreoretinopathy 1 [MeSH Supplementary Concept]
- exudative vitreoretinopathy 3 [MeSH Supplementary Concept]
- exudative vitreoretinopathy 4 [MeSH Supplementary Concept]
- exudative vitreoretinopathy 5 [MeSH Supplementary Concept]
- exudative vitreoretinopathy, familial, X-Linked recessive [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial exudative vitreoretinopathy (disorder) [SNOMED CT concept]
- familial exudative vitreoretinopathy [Disease (Nov.)]
Validated automatic mappings to BTNT
- Exudative Vitreoretinopathy 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

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