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 hemostatic system\Thrombophilia\Hereditary thrombophilia (disorder)\Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
\Disease\Congenital disease (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

12704371000172113 thrombophilie héréditaire due au déficit congénital en glycoprotéine riche en histidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12704381000172111 thrombophilie héréditaire due à un déficit congénital en HRG (histidine-rich glycoprotein) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4837631000172113 erfelijke trombofilie door congenitale HRG-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4837641000172118 hereditaire trombofilie door congenitale histidine-rijk (poly-L) glycoproteïne-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Is a	Hereditary thrombophilia (disorder)	true	Inferred relationship	Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Interprets	Hemostatic function	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
12704371000172113	thrombophilie héréditaire due au déficit congénital en glycoprotéine riche en histidine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12704381000172111	thrombophilie héréditaire due à un déficit congénital en HRG (histidine-rich glycoprotein)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4837631000172113	erfelijke trombofilie door congenitale HRG-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4837641000172118	hereditaire trombofilie door congenitale histidine-rijk (poly-L) glycoproteïne-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)