Cataract 8, multiple types

Preferred Label : Cataract 8, multiple types;

Symbol : CTRCT8;

CISMeF acronym : CCV; CTRCT8;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cataract, congenital, volkmann type; CCV;

Description : The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable opacities in the lens to dense cataracts. Affected members may thus be unaware of having the disease (Eiberg et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Volkmann Type; CCV.';

Inheritance : Autosomal dominant;

Prefixed ID : %115665;

Détails

Origin ID

115665;

UMLS CUI

C1861833;

Automatic exact mappings (from CISMeF team)
- Cutaneous collagenous vasculopathy [ORDO Disease]
- Cyclophosphamide/Lomustine/Vincristine Regimen [NCIt concept]
- Early-onset non-syndromic cataract [ORDO Disease]
- canine coronavirus [SNOMED Notion]
- cardiovascular surgery [CISMeF Querying Strategy]
- cataract, congenital, Volkmann type [HGNC gene]
- coronavirus, canine [MeSH Descriptor]
- coronavirus, canine [MeSH concept]
Currated CISMeF NLP mapping
- Cataract congenital Volkmann type [MeSH concept]
- Congenital cataract, Volkmann type [ORDO Disease]
- cataract 8 multiple types [DO Concept]
- cataract congenital volkmann type [MeSH Supplementary Concept]
DO Cross reference
- cataract 8 multiple types [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Nuclear cataract [HPO term]
- Progressive visual loss [HPO term]
ORDO concept(s)
- Congenital cataract, Volkmann type [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract congenital Volkmann type [MeSH concept]
- Congenital cataract, Volkmann type [ORDO Disease]
- cataract 8 multiple types [DO Concept]
- cataract congenital volkmann type [MeSH Supplementary Concept]

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