783250007: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia (disorder)\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• \Disease\Disorder of hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758276014	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758277017	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758278010	A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3758279019	A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discolouration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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