Bietti Crystalline Corneoretinal Dystrophy

Preferred Label : Bietti Crystalline Corneoretinal Dystrophy;

NCIt synonyms : BCD;

NCIt definition : An autosomal recessive condition caused by mutation (s) in the CYP4V2 gene, encoding cytochrome P450 4V2. It is characterized by multiple glistening intraretinal crystalline deposits scattered throughout the posterior pole associated with progressive atrophy of the retinal pigment epithelium and choroidal sclerosis. The crystalline deposits are also present in the corneal limbus in some individuals.;

Details

Origin ID

C179299;

UMLS CUI

C1859486;

Automatic exact mappings (from CISMeF team)
- Guidance for balloon dilatation [LOINC component]
Currated CISMeF NLP mapping
- Bietti crystalline corneoretinal dystrophy [DO Concept]
- Bietti crystalline corneoretinal dystrophy [OMIM Phenotype]
- Bietti crystalline dystrophy [ORDO Disease]
- Bietti crystalline retinopathy [ICD-11 More detail]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bietti crystalline corneoretinal dystrophy [OMIM Phenotype]
- Bietti crystalline dystrophy [Disease (Nov.)]
- Bietti's crystalline retinopathy (disorder) [SNOMED CT concept]
- bietti crystalline dystrophy [MeSH Supplementary Concept]
- bietti crystalline dystrophy [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- CYP4V2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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