43217004: Hereditary factor XII deficiency disease (disorder)

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

\Functional finding\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\...

\Contact factor deficiency (disorder)\Factor XII deficiency disease\Hereditary factor XII deficiency disease

\Includes both quantitative and qualitative disorders of procoagulants\Factor XII deficiency disease\Hereditary factor XII deficiency disease
\Includes both quantitative and qualitative disorders of procoagulants\Hereditary coagulation factor deficiency\Hereditary factor XII deficiency disease

\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary factor XII deficiency disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary factor XII deficiency disease
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Contact factor deficiency (disorder)\Factor XII deficiency disease\Hereditary factor XII deficiency disease
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Includes both quantitative and qualitative disorders of procoagulants\Factor XII deficiency disease\Hereditary factor XII deficiency disease
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Includes both quantitative and qualitative disorders of procoagulants\Hereditary coagulation factor deficiency\Hereditary factor XII deficiency disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

72102014 Hereditary factor XII deficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

72103016 Hereditary Hageman factor deficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

780203015 Hereditary factor XII deficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4637191000005110 hereditær faktor XII-mangelsygdom da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary factor XII deficiency disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary factor XII deficiency disease	Is a	Hereditary coagulation factor deficiency	true	Inferred relationship	Some
Hereditary factor XII deficiency disease	Is a	Factor XII deficiency disease	true	Inferred relationship	Some
Hereditary factor XII deficiency disease	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some
Hereditary factor XII deficiency disease	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary factor XII deficiency disease	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Hereditary factor XII deficiency disease	Interprets	Haemostatic function	true	Inferred relationship	Some	1
Hereditary factor XII deficiency disease	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets