440989002: Prothrombin G20210A mutation (disorder)

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

\Functional finding\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Prothrombin G20210A mutation (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia (disorder)\Prothrombin G20210A mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Prothrombin G20210A mutation (disorder)
\Disease\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Prothrombin G20210A mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2789930019 Prothrombin G20210A mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2790283013 Prothrombin G20210A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2789930019 Prothrombin G20210A mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2790283013 Prothrombin G20210A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5333361000241116 mutation G20210A du gène de la prothrombine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5333361000241116 mutation G20210A du gène de la prothrombine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prothrombin G20210A mutation (disorder)	Is a	Hereditary thrombophilia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Prothrombin G20210A mutation (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prothrombin G20210A mutation (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Prothrombin G20210A mutation (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous prothrombin G20210A mutation (disorder)	Is a	True	Prothrombin G20210A mutation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Heterozygous prothrombin G20210A mutation	Is a	True	Prothrombin G20210A mutation (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets