16922007: Hereditary coagulation factor deficiency (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.\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency

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

28648014 Hereditary coagulation factor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

744042017 Hereditary coagulation factor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

28648014 Hereditary coagulation factor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

28648014 Hereditary coagulation factor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

744042017 Hereditary coagulation factor deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

744042017 Hereditary coagulation factor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

345131000077110 déficit héréditaire en facteur de coagulation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

50013381000188111 déficit héréditaire en facteurs de coagulation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

345131000077110 déficit héréditaire en facteur de coagulation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

50013381000188111 déficit héréditaire en facteurs de coagulation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary coagulation factor deficiency	Is a	Coagulation factor deficiency syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Is a	Hereditary disorder by system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Is a	Hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary coagulation factor deficiency	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Factor XIII deficiency disease	Is a	False	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia A	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Is a	False	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor II deficiency disease (disorder)	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor X deficiency disease	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor VII deficiency syndrome	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor XII deficiency disease	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor XI deficiency disease	Is a	False	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial multiple factor deficiency syndrome	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor V deficiency disease	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor XIII deficiency disease	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor I deficiency disease	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary factor IX deficiency disease (disorder)	Is a	False	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare hemorrhagic disorder due to a constitutional hemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary combined coagulation factor deficiency	Is a	True	Hereditary coagulation factor deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets