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

2789416017 Hereditary thrombophilia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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 Only initial character 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

383401000172114 thrombophilie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary thrombophilia (disorder)	Is a	Thrombophilia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary thrombophilia (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary thrombophilia (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary thrombophilia (disorder)	Is a	Hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary antithrombin III deficiency (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary heparin cofactor II deficiency	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary protein S deficiency (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary protein C deficiency (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hyperfibrinogenemia	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hyperhomocysteinemia (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary thrombophilic dysfibrinogenemia (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Prothrombin G20210A mutation (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elevated factor XI (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elevated factor VIII (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Factor V Leiden mutation	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Resistance to activated protein C due to factor V Leiden mutation	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets