Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3758276014 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3758277017 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3758278010 | A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3758279019 | A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discolouration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | est un(e) (attribut) | Hereditary thrombophilia (disorder) | true | Inferred relationship | Some | ||
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 2 | |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | interprète (attribut) | Hemostatic function (observable entity) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR