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 |
| 3324406013 | Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3324407016 | Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3324408014 | PXE (pseudoxanthoma elasticum) like syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324409018 | Pseudoxanthoma elasticum-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324410011 | This syndrome has characteristics of hyperlaxity of the skin involving the entire body. It has been described in six patients. The phenotype is linked to a deficiency in vitamin K-dependent clotting factors and the syndrome has been associated with mutations in the GGCX gene. This gene encodes gamma-glutamyl carboxylase, an enzyme that has already been implicated in congenital vitamin K-dependent clotting factor deficiencies. This syndrome should be distinguished from pseudoxanthoma elasticum and cutis laxa in which the excessive skin folding is limited to specific zones. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 870251000172112 | syndrome PXE (pseudoxanthome élastique)-like | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 928711000172112 | hyperlaxité de la peau par déficit en facteur de coagulation dépendant de la vitamine K | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 954631000172116 | PXE (pseudoxanthoma elasticum)-achtig syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1020031000172113 | lichaamshuidhyperlaxiteit als gevolg van vitamine K-afhankelijke coagulatiefactordeficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | Due to | Coagulation factor deficiency syndrome | true | Inferred relationship | Some | 2 | |
| Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | Is a | Collagen and elastic tissue disorders affecting skin | true | Inferred relationship | Some | ||
| Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR