Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
73884017 | Congenital coloboma of optic disc | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
493844018 | Congenital optic disc coloboma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
781406016 | Congenital coloboma of optic disc (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
2608391000005110 | Kongenit coloboma i synsnervepapil | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Congenital coloboma of left optic disc | Is a | True | Congenital coloboma of optic disc | Inferred relationship | Some | |
Congenital coloboma of right optic disc (disorder) | Is a | True | Congenital coloboma of optic disc | Inferred relationship | Some | |
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. | Is a | True | Congenital coloboma of optic disc | Inferred relationship | Some |
This concept is not in any reference sets