128108002: Hereditary von Willebrand disease type 3 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Functional finding\Disorder of haemostatic system\Blood coagulation disorder\von Willebrand disorder\Hereditary von Willebrand disease\von Willebrand disease type 3
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary von Willebrand disease\von Willebrand disease type 3
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\von Willebrand disease type 3
• \Disease\Disorder of haemostatic system\Blood coagulation disorder\von Willebrand disorder\Hereditary von Willebrand disease\von Willebrand disease type 3

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
194702013	von Willebrand disease type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
206398017	Hereditary von Willebrand disease type 3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5034731017	von Willebrand disease type III	en	Synonym	Active	Case sensitive	SNOMED CT core
5156393014	Hereditary von Willebrand disease type 3 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5156394015	A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive.	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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