Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3499907019 | Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403240013 | This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403241012 | This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498180013 | Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498181012 | Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498182017 | Balikova Vermeesch syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Microtia (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Congenital ocular coloboma (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Atresia of nasolacrimal duct | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Finding site | External ear structure | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Finding site | Eye structure | false | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | kongenit atresi | false | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Finding site | Nasolacrimal duct structure | false | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Finding site | External ear structure | false | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | kongenit atresi | false | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Finding site | Eye structure | true | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Finding site | Nasolacrimal duct structure | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR