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 |
| 3434247018 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434248011 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434249015 | The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 891811000172110 | syndrome d'hypercoagulabilité par déficit héréditaire en glycosyl phosphatidyl inositol | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 944821000172117 | anomalie congénitale de la glycosylation par déficit en PIGM | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 935981000172113 | congenitale defecten van glycosylering door PIGM-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 978081000172116 | hypercoagulabiliteitssyndroom als gevolg van glycosylfosfatidylinositoldeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | Is a | Disorder of glycoprotein metabolism | true | Inferred relationship | Some | ||
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | Is a | Hereditary thrombophilia (disorder) | true | Inferred relationship | Some | ||
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (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