Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302274016 | Autosomal dominant keratitis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302275015 | Autosomal dominant keratitis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302276019 | Hereditary keratitis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302277011 | Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302278018 | Opacification and vascularisation of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant keratitis (disorder) | Is a | Keratitis | true | Inferred relationship | Some | ||
Autosomal dominant keratitis (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant keratitis (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
Autosomal dominant keratitis (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Autosomal dominant keratitis (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
Autosomal dominant keratitis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Autosomal dominant keratitis (disorder) | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Autosomal dominant keratitis (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets