1230015008: Hereditary angioedema with C1 esterase inhibitor deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Oedema\Disorder characterised by oedema\Angioedema and/or urticaria\Angioedema\Hereditary angioedema\Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary angioedema\Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency
• \Disease\Disorder characterised by oedema\Angioedema and/or urticaria\Angioedema\Hereditary angioedema\Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5066401015	Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5066402010	Hereditary angioedema with C1 esterase inhibitor deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5066403017	Hereditary angioedema with C1 esterase inhibitor deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5066404011	HAE (hereditary angioedema) with C1Inh (C1 esterase inhibitor) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
5066405012	Hereditary angioneurotic oedema with C1 inhibitor deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5066406013	Hereditary angioneurotic edema with C1 inhibitor deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5066407016	A rare hereditary angio-oedema characterised by potentially life-threatening episodes of subcutaneous and/or submucosal oedema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angio-oedema (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 oedema 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.	en	Definition	Active	Case sensitive	SNOMED CT core
5066408014	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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Problem/Diagnosis reference set

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