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 |
3313325015 | Bornholm eye disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3313327011 | X-linked cone dysfunction syndrome with myopia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3313328018 | X-linked cone dysfunction syndrome with myopia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401833014 | X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401834015 | X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked cone dysfunction syndrome with myopia (disorder) | Is a | Myopia | true | Inferred relationship | Some | ||
X-linked cone dysfunction syndrome with myopia (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked cone dysfunction syndrome with myopia (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
X-linked cone dysfunction syndrome with myopia (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 1 | |
X-linked cone dysfunction syndrome with myopia (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)