Retinal Cone Dystrophy 3B

Preferred Label : Retinal Cone Dystrophy 3B;

NCIt synonyms : RCD3B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the KCNV2 gene, encoding potassium voltage-gated channel subfamily V member 2. It is characterized by photophobia, progressive loss of visual acuity and reduced color discrimination.;

Détails

Origin ID

C192089;

UMLS CUI

C1835897;

Currated CISMeF NLP mapping
- Cone dystrophy with supernormal rod response [ORDO Disease]
- Cone dystrophy with supernormal rod response (disorder) [SNOMED CT concept]
- Retinal cone dystrophy 3b [OMIM Phenotype]
- retinal cone dystrophy 3B [MeSH concept]
- retinal cone dystrophy 3B [MeSH Supplementary Concept]
- retinal cone dystrophy 3b [Disease (Nov.)]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone dystrophy with supernormal rod response (disorder) [SNOMED CT concept]
- Retinal cone dystrophy 3b [OMIM Phenotype]
- retinal cone dystrophy 3B [MeSH Supplementary Concept]
- retinal cone dystrophy 3B [MeSH concept]
- retinal cone dystrophy 3b [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Eye [NCIt concept]
- Retina [NCIt concept]
disease_mapped_to_gene
- KCNV2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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