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 |
3498159019 | Nasopalpebral lipoma coloboma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498160012 | Nasopalpebral lipoma coloboma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499901018 | Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
1020411000172110 | syndrome de lipomes naso-palpébraux-colobome | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
893801000172113 | nasopalpebraal lipoom, coloboomsyndroom | 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 |
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Benign neoplasm of face | true | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Coloboma of eyelid | true | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Lipoma of head and neck | false | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Finding site | Eyelid structure | true | Inferred relationship | Some | 2 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Associated morphology | Lipoma morphology (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Associated morphology | Lipoma morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Nasopalpebral lipoma coloboma syndrome (disorder) | Is a | Lipoma of head | true | Inferred relationship | Some | ||
Nasopalpebral lipoma coloboma syndrome (disorder) | 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