Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4650607016 | Colobomatous macrophthalmia with microcornea syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4650608014 | Colobomatous macrophthalmia with microcornea syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4650917012 | MACOM (macrophthalmia colobomatous with microcornea) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4650606013 | A rare genetic eye disease with characteristics of 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)