439702007: Hereditary protein S deficiency (disorder)

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

\Functional finding\Disorder of hemostatic system\...

\Thrombophilia\Hereditary thrombophilia (disorder)\Hereditary protein S deficiency (disorder)
\Thrombophilia\Protein S deficiency disease\Hereditary protein S deficiency (disorder)

\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Deficiency of naturally occurring coagulation factor inhibitor (disorder)\Protein S deficiency disease\Hereditary protein S deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia (disorder)\Hereditary protein S deficiency (disorder)
\Disease\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Hereditary protein S deficiency (disorder)
\Disease\Disorder of hemostatic system\Thrombophilia\Protein S deficiency disease\Hereditary protein S deficiency (disorder)
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Deficiency of naturally occurring coagulation factor inhibitor (disorder)\Protein S deficiency disease\Hereditary protein S deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2788437018 Hereditary protein S deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2791861013 Hereditary protein S deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5328941000241111 déficit en protéine S, héréditaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3426591001000119 Schwere hereditäre Thrombophilie durch kongenitalen Protein-S-Mangel 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 protein S deficiency (disorder)	Is a	Hereditary thrombophilia (disorder)	true	Inferred relationship	Some
Hereditary protein S deficiency (disorder)	Is a	Protein S deficiency disease	true	Inferred relationship	Some
Hereditary protein S deficiency (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	1
Hereditary protein S deficiency (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homozygous protein S deficiency (disorder)	Is a	True	Hereditary protein S deficiency (disorder)	Inferred relationship	Some
Heterozygous protein S deficiency (disorder)	Is a	True	Hereditary protein S deficiency (disorder)	Inferred relationship	Some

This concept is not in any reference sets