439698008: hereditaire trombofilie (aandoening)

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
392421000146118 hereditaire trombofilie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
392431000146116 hereditaire trombofilie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)	Is a	True	Hereditary thrombophilia (disorder)	Inferred relationship	Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	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