hereditary antithrombin deficiency
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
thrombophilia |
| gptkbp:affects |
antithrombin protein
|
| gptkbp:alsoKnownAs |
congenital antithrombin deficiency
inherited antithrombin deficiency |
| gptkbp:causedBy |
mutation in SERPINC1 gene
|
| gptkbp:diagnosedBy |
antithrombin activity assay
|
| gptkbp:firstDescribed |
1965
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary antithrombin deficiency
|
| gptkbp:ICD-10_code |
D68.5
|
| gptkbp:inheritsFrom |
autosomal dominant
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
venous thromboembolism
|
| gptkbp:symptom |
pulmonary embolism
deep vein thrombosis |
| gptkbp:treatment |
anticoagulants
|
| gptkbp:bfsParent |
gptkb:antithrombin
|
| gptkbp:bfsLayer |
7
|