724356003: Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Functional finding\Disorder of haemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\...
• \Combined coagulation factor deficiency\Hereditary combined coagulation factor deficiency\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Hereditary coagulation factor deficiency\Hereditary combined coagulation factor deficiency\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary combined coagulation factor deficiency\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Disorder of haemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Combined coagulation factor deficiency\Hereditary combined coagulation factor deficiency\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Disorder of haemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Hereditary combined coagulation factor deficiency\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hereditary combined deficiency of vitamin K-dependent clotting factors
• \Disease\Congenital disease\Inborn error of metabolism\Hereditary combined deficiency of vitamin K-dependent clotting factors

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3434469011	Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3434470012	Hereditary combined deficiency of vitamin K-dependent clotting factors	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3434471011	Hereditary combined deficiency of factors II, VII, IX and X	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3434472016	A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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