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 |
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 |
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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4879311000172119 | syndroom van Balikova-Vermeesch | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4879321000172112 | syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Microtia | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Congenital ocular coloboma (disorder) | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Atresia of nasolacrimal duct | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 3 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Finding site | External ear structure | true | Inferred relationship | Some | 3 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Finding site | Eye structure | false | Inferred relationship | Some | 5 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 3 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Finding site | Nasolacrimal duct structure (body structure) | false | Inferred relationship | Some | 3 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 4 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Finding site | External ear structure | false | Inferred relationship | Some | 4 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 1 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Finding site | Eye structure | true | Inferred relationship | Some | 2 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Finding site | Nasolacrimal duct structure (body structure) | true | Inferred relationship | Some | 1 | |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets