FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

439698008: Hereditary thrombophilia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2789416017 Hereditary thrombophilia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2794141016 Hereditary thrombophilia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2794142011 Hereditary hypercoagulable disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2871986010 Primary thrombophilia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4611571000005119 hereditær trombofili da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


23 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary thrombophilia (disorder) Is a Thrombophilia true Inferred relationship Some
Hereditary thrombophilia (disorder) Interprets Haemostatic function true Inferred relationship Some 1
Hereditary thrombophilia (disorder) Has interpretation Abnormal true Inferred relationship Some 1
Hereditary thrombophilia (disorder) Is a Hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary antithrombin III deficiency (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary heparin cofactor II deficiency (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary protein S deficiency (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary protein C deficiency (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary hyperfibrinogenemia (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary hyperhomocysteinemia (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary thrombophilic dysfibrinogenemia (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Prothrombin G20210A mutation (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary elevated factor XI (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Hereditary elevated factor VIII (disorder) Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Factor V Leiden mutation Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
A rare congenital disorder of glycosylation characterised by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy. Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
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. Is a True Hereditary thrombophilia (disorder) Inferred relationship Some
Resistance to activated protein C due to factor V Leiden mutation Is a True Hereditary thrombophilia (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start