724344004: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Functional finding\Disorder of haemostatic system\Thrombophilia\Hereditary thrombophilia\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• \Disease\Disorder of haemostatic system\Thrombophilia\Hereditary thrombophilia\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3434247018	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3434248011	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3434249015	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.	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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