82966003: Hereditary angioedema (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Oedema\Disorder characterized by edema\Angioedema and/or urticaria (disorder)\Angioedema\Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.

\Disease\Genetic disease\Hereditary disease\Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.
\Disease\Disorder characterized by edema\Angioedema and/or urticaria (disorder)\Angioedema\Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Angioedema	true	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Complement regulatory factor defect	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some	2
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Associated morphology	A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema.	false	Inferred relationship	Some	1
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Finding site	Skin structure	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Associated morphology	Inflammation	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Angioedema due to disorder of kinin metabolism	false	Inferred relationship	Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Associated morphology	Angioedema	true	Inferred relationship	Some	1
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	False	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Is a	False	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Inferred relationship	Some
A rare non-histaminic angioedema characterised by potentially life-threatening episodes of oedema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting oedema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa and severe oedema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.	Is a	False	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Inferred relationship	Some
ACE inhibitor-aggravated angioedema-urticaria (disorder)	Is a	False	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Inferred relationship	Some
Hereditary angioedema without abnormal C1 inhibitor levels or function. One type has been found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. Mechanisms include mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Is a	True	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Inferred relationship	Some
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.	Is a	True	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3943505015	Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
137607018	Hereditary angioneurotic edema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
137609015	Hereditary Quincke's edema	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
137610013	Hereditary angioedema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
201052011	Hereditary Quincke's oedema	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
505363019	Hereditary angioneurotic oedema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216996012	HANE - Hereditary angioneurotic oedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216997015	HAE - Hereditary angio-oedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216998013	Hereditary angio-oedema	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218486018	HANE - Hereditary angioneurotic edema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1218487010	HAE - Hereditary angioedema	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009695016	Hereditary angioedema (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2959711000005118	hereditært Quinckes ødem	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)