Birdshot chorioretinopathy

Preferred Label : Birdshot chorioretinopathy;

CISMeF acronym : BSCR;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : BSCR;

Description : Birdshot chorioretinopathy (BSCR) is characterized by multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc and radiating toward the equator. These depigmented spots, the most distinctive sign of the syndrome, appear at the level of the retinal pigment epithelium but, on occasion, suggest an even deeper infiltration. The retinal vasculopathy and inflammatory signs associated with the funduscopic findings lead regularly to visual loss. Szpak et al. (2001) noted that the human MHC class I specificity HLA-A29 (see 142800) had been observed in nearly all patients (95.8%) with BSCR compared with 7% in healthy controls.;

Inheritance : Autosomal dominant;

Prefixed ID : 605808;

Details

Origin ID

605808;

UMLS CUI

C1853959;

Automatic exact mappings (from CISMeF team)
- Birdshot chorioretinopathy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Birdshot Chorioretinopathy [MeSH Descriptor]
- Birdshot chorioretinitis (disorder) [SNOMED CT concept]
- Birdshot chorioretinopathy [MeSH concept]
- Birdshot chorioretinopathy [ORDO Disease]
- Birdshot chorioretinopathy [MedDRA Preferred Term]
- birdshot chorioretinopathy [DO Concept]
- birdshot chorioretinopathy [Disease (Nov.)]
DO Cross reference
- birdshot chorioretinopathy [DO Concept]
HPO term(s)
- Abnormal chorioretinal morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Posterior uveitis [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Visual impairment [HPO term]
- Vitritis [HPO term]
ORDO concept(s)
- Birdshot chorioretinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Birdshot Chorioretinopathy [MeSH Descriptor]
- Birdshot chorioretinitis (disorder) [SNOMED CT concept]
- Birdshot chorioretinopathy [ORDO Disease]
- Birdshot chorioretinopathy [MeSH concept]
- Birdshot chorioretinopathy [MedDRA Preferred Term]
- Birdshot choroidal lesions [HPO term]
- birdshot chorioretinopathy [DO Concept]
- birdshot chorioretinopathy [Disease (Nov.)]

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