439698008: Hereditary thrombophilia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia (disorder)
\Disease\Disorder of hemostatic system\Thrombophilia\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

1816721000195111 trombofilia ereditaria it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

383401000172114 thrombophilie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2422821000195115 Hereditäre Thrombophilie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2422831000195118 Kongenitale Hyperkoagulabilität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2422841000195114 Primäre Thrombophilie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Hemostatic 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 characterized by 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.	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