Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331769010 | Cataract and microcornea syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331770011 | Cataract and microcornea syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331771010 | The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3919691000052111 | syndrom med katarakt och mikrokornea | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cataract and microcornea syndrome (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
Cataract and microcornea syndrome (disorder) | Is a | Microcornea | true | Inferred relationship | Some | ||
Cataract and microcornea syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Cataract and microcornea syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Cataract and microcornea syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Cataract and microcornea syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Finding site | Corneal structure | false | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Associated morphology | medfödd katarakt | false | Inferred relationship | Some | 3 | |
Cataract and microcornea syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 3 | |
Cataract and microcornea syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Cataract and microcornea syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cataract and microcornea syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Cataract and microcornea syndrome (disorder) | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Cataract and microcornea syndrome (disorder) | Associated morphology | katarakt | false | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
Cataract and microcornea syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets