Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323526017 | Klippel Trenaunay syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323527014 | Klippel Trenaunay syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323530019 | A syndrome affecting the development of blood vessels, soft tissue and bone with three characteristic features: port-wine stain, abnormal overgrowth of soft tissues and bones and venous malformations. Caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. This syndrome is almost always sporadic meaning it can occur in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
11414231000172114 | Klippel-Trenaunay, d'origine congénitale | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
12309291000172115 | syndrome de Klippel-Trenaunay | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
2192911000172118 | Klippel Trenaunay-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
2192931000172114 | Klippel-Trenaunay-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
10847891000172114 | congenitale Klippel-Trenaunay | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Belgian GP subset (foundation metadata concept)
Belgian subset for medical problems in patient health records