Bietti crystalline corneoretinal dystrophy

Preferred Label : Bietti crystalline corneoretinal dystrophy;

Symbol : BCD;

CISMeF acronym : BCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bietti tapetoretinal degeneration with marginal corneal dystrophy; Bietti crystalline dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, family 4, subfamily V, polypeptide-2 gene (CYP4V2, 608614.0001);

Prefixed ID : #210370;

Details

Origin ID

210370;

UMLS CUI

C1859486;

Automatic exact mappings (from CISMeF team)
- BCD Regimen [NCIt concept]
- BCD protocol [MeSH Supplementary Concept]
- Chlordecone reductase (substance) [SNOMED CT concept]
- blepharo-cheilo-dontic syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bietti Crystalline Corneoretinal Dystrophy [NCIt concept]
- Bietti crystalline corneoretinal dystrophy [DO Concept]
- Bietti crystalline dystrophy [Disease (Nov.)]
- Bietti crystalline dystrophy [ORDO Disease]
- Bietti crystalline retinopathy [PASCAL descriptor]
- Bietti crystalline retinopathy [ICD-11 More detail]
- Bietti's crystalline retinopathy (disorder) [SNOMED CT concept]
- bietti crystalline dystrophy [MeSH concept]
- bietti crystalline dystrophy [MeSH Supplementary Concept]
DO Cross reference
- Bietti crystalline corneoretinal dystrophy [DO Concept]
False automatic mappings
- Guidance for balloon dilatation [LOINC component]
Genes related to phenotype
- Cytochrome p450, family 4, subfamily V, polypeptide 2 [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chorioretinal atrophy [HPO term]
- Choroidal vessel sclerosis [HPO term]
- Constriction of peripheral visual field [HPO term]
- High myopia [HPO term]
- Marginal corneal dystrophy [HPO term]
- Paracentral scotoma [HPO term]
- Progressive night blindness [HPO term]
- Progressive visual loss [HPO term]
- Retinal degeneration [HPO term]
ORDO concept(s)
- Bietti crystalline dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bietti Crystalline Corneoretinal Dystrophy [NCIt concept]
- Bietti crystalline corneoretinal dystrophy [DO Concept]
- Bietti crystalline dystrophy [ORDO Disease]
- Bietti crystalline dystrophy [Disease (Nov.)]
- Bietti crystalline retinopathy [PASCAL descriptor]
- Bietti's crystalline retinopathy (disorder) [SNOMED CT concept]
- bietti crystalline dystrophy [MeSH Supplementary Concept]
- bietti crystalline dystrophy [MeSH concept]

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