724344004: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia (disorder)\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
• \Disease\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434248011	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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