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82966003: Hereditary angioedema (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
5447450013 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5447451012 Hereditary angioedema (HAE) is a genetic disease characterised by the occurrence of transitory and recurrent subcutaneous and/or submucosal oedemas resulting in swelling and/or abdominal pain. 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
870281000172119 angio-oedème héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968011000172116 angio-oedème bradykinique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50009651000188113 oedème angioneurotique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50009671000188118 angio-oedème non histaminique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50009681000188115 angio-oedème familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432831001000119 Angioödem, hereditäres de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a Hereditary disorder of the integument false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a Angioedema true Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a Complement regulatory factor defect false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a Autosomal dominant hereditary disorder (disorder) false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a Hereditary disorder of immune system false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Finding site Structure of immune system (body structure) false Inferred relationship Some 2
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Associated morphology A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema. false Inferred relationship Some 1
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Finding site Skin structure false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Associated morphology inflammation false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Has definitional manifestation Immune system finding false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a Angioedema due to disorder of kinin metabolism false Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Some 3
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Associated morphology Angioedema true Inferred relationship Some 1
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. 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 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Is a False Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. 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 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Inferred relationship Some
ACE inhibitor-aggravated angioedema-urticaria (disorder) Is a False Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. 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 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. 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 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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