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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Microcornea | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Congenital coloboma of optic disc | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Congenital coloboma of iris | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Is a | Macrophthalmos | true | Inferred relationship | Some | ||
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Finding site | Iris structure | true | Inferred relationship | Some | 1 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Finding site | Optic disc structure | true | Inferred relationship | Some | 2 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Finding site | Corneal structure | true | Inferred relationship | Some | 3 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Finding site | Entire eye | false | Inferred relationship | Some | 4 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Finding site | Entire eye proper | true | Inferred relationship | Some | 4 | |
| Colobomatous macrophthalmia with microcornea syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR