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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403051015 | A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403052010 | A rare multiple congenital anomalies syndrome characterised by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Benign neoplasm of face | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Coloboma of eyelid | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Lipoma of head and/or neck (disorder) | false | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Finding site | Eyelid structure | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Associated morphology | Lipoma morphology (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Associated morphology | Lipoma morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Lipoma of head | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR