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

• SNOMED CT Concept\Clinical finding\...
• \Functional finding\Disorder of haemostatic system\Thrombophilia\Hereditary thrombophilia\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary thrombophilia\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 haemostatic system\Thrombophilia\Hereditary thrombophilia\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• \Disease\Congenital disease\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3758277017	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	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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