vitreoretinochoroidopathy

Preferred Label : vitreoretinochoroidopathy;

Définition CISMeF : Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.;

MeSH note : mutation on BEST1 protein, human;

CISMeF synonym : microcornea, Rod-Cone dystrophy, cataract, and posterior staphyloma;

MeSH synonym : autosomal dominant vitreoretinochoroidopathy; ADVIRC; vitreoretinochoroidopathy, autosomal dominant; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos; vitreoretinochoroidopathy dominant; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract;

Details

Origin ID

C536352;

UMLS CUI

C3888099;

Automatic exact mappings (from CISMeF team)
- MRCS syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant vitreoretinochoroidopathy [ICD-11 More detail]
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
- Autosomal dominant vitreoretinochoroidopathy (disorder) [SNOMED CT concept]
- Vitreoretinochoroidopathy [OMIM Phenotype]
- autosomal dominant vitreoretinochoroidopathy [DO Concept]
DO Cross reference
- autosomal dominant vitreoretinochoroidopathy [DO Concept]
MeSH term(s) associated for indexing
- choroid diseases [MeSH Descriptor]
- eye diseases, hereditary [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
ORDO relation(s)
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
Record concept(s)
- microcornea, Rod-Cone dystrophy, cataract, and posterior staphyloma [MeSH concept]
- vitreoretinochoroidopathy [MeSH concept]
See also inter- (CISMeF)
- MRCS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
- Autosomal dominant vitreoretinochoroidopathy (disorder) [SNOMED CT concept]
- Vitreoretinochoroidopathy [OMIM Phenotype]
- autosomal dominant vitreoretinochoroidopathy [DO Concept]

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