440989002: protrombine-G20210A-mutatie (aandoening)

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

6674961000146112 protrombine-G20210A-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6674971000146118 protrombine-G20210A-mutatie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7407401000146119 mutatie van protrombine G20210A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7700801000146114 G20210A-mutatie van protrombine nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7700811000146111 G20210A-mutatie van bloedstollingsfactor II nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7700821000146118 G20210A-mutatie van stollingsfactor II nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7700831000146116 protrombinemutatie G20210A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7700841000146112 G20210A-mutatie van factor II nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13479901000146116 trombofilie door G20210A-mutatie van factor II nl Synonym (core metadata concept) Active Only initial character 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
Prothrombin G20210A mutation (disorder)	Is a	Hereditary thrombophilia (disorder)	true	Inferred relationship	Some
Prothrombin G20210A mutation (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	1
Prothrombin G20210A mutation (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Prothrombin G20210A mutation (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous prothrombin G20210A mutation (disorder)	Is a	True	Prothrombin G20210A mutation (disorder)	Inferred relationship	Some
Heterozygous prothrombin G20210A mutation (disorder)	Is a	True	Prothrombin G20210A mutation (disorder)	Inferred relationship	Some

This concept is not in any reference sets