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 |
1020411000172110 | syndrome de lipomes naso-palpébraux-colobome | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
759381000241112 | syndrome de lipomes naso-palpébraux-colobome (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets