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 |
| 3434469011 | Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3434470012 | Hereditary combined deficiency of vitamin K-dependent clotting factors | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3434471011 | Hereditary combined deficiency of factors II, VII, IX and X | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3434472016 | A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 893371000172112 | déficit héréditaire combiné en facteurs de la coagulation dépendants de la vitamine K | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 972111000172110 | déficit héréditaire combiné en facteur II, VII, IX et X | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Is a | Hereditary combined coagulation factor deficiency (disorder) | true | Inferred relationship | Some | ||
| Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Interprets | Hemostatic function | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR