715559004: gecombineerde deficiëntie van stollingsfactor V en VIII (aandoening)

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

\Functional finding\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\...

\Combined coagulation factor deficiency\Hereditary combined coagulation factor deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)

\Factor VIII deficiency\Combined deficiency of factor V and factor VIII (disorder)

\Hereditary coagulation factor deficiency\Hereditary combined coagulation factor deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)

\Factor V deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary combined coagulation factor deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined deficiency of factor V and factor VIII (disorder)
\Disease\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Combined coagulation factor deficiency\Hereditary combined coagulation factor deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)
\Disease\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Factor VIII deficiency\Combined deficiency of factor V and factor VIII (disorder)
\Disease\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Hereditary combined coagulation factor deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)
\Disease\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Factor V deficiency (disorder)\Combined deficiency of factor V and factor VIII (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined deficiency of factor V and factor VIII (disorder)	Is a	Factor V deficiency (disorder)	true	Inferred relationship	Some
Combined deficiency of factor V and factor VIII (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined deficiency of factor V and factor VIII (disorder)	Is a	Factor VIII deficiency	true	Inferred relationship	Some
Combined deficiency of factor V and factor VIII (disorder)	Is a	Hereditary combined coagulation factor deficiency (disorder)	true	Inferred relationship	Some
Combined deficiency of factor V and factor VIII (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	1
Combined deficiency of factor V and factor VIII (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3303019018	Combined deficiency of factor V and factor VIII (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303020012	Combined deficiency of factor V and factor VIII	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303021011	Factor V and factor VIII combined deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303022016	Familial multiple coagulation factor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6201031000146111	gecombineerde deficiëntie van factor V en factor VIII	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6201061000146119	familiale meervoudige coagulatiefactordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6201071000146113	gecombineerde FV-FVIII-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9892801000146115	gecombineerde deficiëntie van stollingsfactor V en VIII (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9892811000146118	gecombineerde deficiëntie van stollingsfactor V en VIII	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3303023014	An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core