Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
4650608014 | Colobomatous macrophthalmia with microcornea syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4650917012 | MACOM (macrophthalmia colobomatous with microcornea) syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Colobomatous macrophthalmia with microcornea syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Is a | Microcornea | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Is a | Congenital coloboma of optic disc | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Is a | Congenital coloboma of iris | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Is a | Macrophthalmos | true | Inferred relationship | Some | ||
Colobomatous macrophthalmia with microcornea syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Colobomatous macrophthalmia with microcornea syndrome | Finding site | Iris structure | true | Inferred relationship | Some | 1 | |
Colobomatous macrophthalmia with microcornea syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 1 | |
Colobomatous macrophthalmia with microcornea syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Colobomatous macrophthalmia with microcornea syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Colobomatous macrophthalmia with microcornea syndrome | Finding site | Optic disc structure | true | Inferred relationship | Some | 2 | |
Colobomatous macrophthalmia with microcornea syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 2 | |
Colobomatous macrophthalmia with microcornea syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Colobomatous macrophthalmia with microcornea syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Colobomatous macrophthalmia with microcornea syndrome | Finding site | Corneal structure | true | Inferred relationship | Some | 3 | |
Colobomatous macrophthalmia with microcornea syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 3 | |
Colobomatous macrophthalmia with microcornea syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Colobomatous macrophthalmia with microcornea syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Colobomatous macrophthalmia with microcornea syndrome | Finding site | Entire eye | true | Inferred relationship | Some | 4 | |
Colobomatous macrophthalmia with microcornea syndrome | Associated morphology | Enlargement | true | Inferred relationship | Some | 4 | |
Colobomatous macrophthalmia with microcornea syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set