234619000: Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder)

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

\Oedema\Disorder characterized by edema\Angioedema and/or urticaria (disorder)\Angioedema\...

\Angioedema due to disorder of kinin metabolism\Hereditary C1 esterase inhibitor deficiency - deficient factor

\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.\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.\Hereditary C1 esterase inhibitor deficiency - deficient factor

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary C1 esterase inhibitor deficiency - deficient factor
\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.\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.\Hereditary C1 esterase inhibitor deficiency - deficient factor
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary C1 esterase inhibitor deficiency - deficient factor
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary C1 esterase inhibitor deficiency - deficient factor
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Hereditary C1 esterase inhibitor deficiency - deficient factor
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Complement regulatory factor defect\Hereditary C1 esterase inhibitor deficiency - deficient factor
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary C1 esterase inhibitor deficiency - deficient factor
\Disease\Disorder characterized by edema\Angioedema and/or urticaria (disorder)\Angioedema\Angioedema due to disorder of kinin metabolism\Hereditary C1 esterase inhibitor deficiency - deficient factor
\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.\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.\Hereditary C1 esterase inhibitor deficiency - deficient factor

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	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.	false	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	2
Hereditary C1 esterase inhibitor deficiency - deficient factor	Finding site	Skin structure	false	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Associated morphology	A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema.	false	Inferred relationship	Some	1
Hereditary C1 esterase inhibitor deficiency - deficient factor	Associated morphology	Inflammation	false	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	allergisk Quinckes ødem forårsaget af C1-esterase-inhibitor-forstyrrelse	false	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3
Hereditary C1 esterase inhibitor deficiency - deficient factor	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	Complement regulatory factor defect	true	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Associated morphology	Angioedema	true	Inferred relationship	Some	1
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	Angioedema due to disorder of kinin metabolism	true	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Causative agent	Kallidin I	true	Inferred relationship	Some	1
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	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.	true	Inferred relationship	Some

Inbound Relationships

Type

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Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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US English

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Id	Description	Lang	Type	Status	Case?	Module
351535014	Hereditary C1 esterase inhibitor deficiency - deficient factor	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351536010	C1 esterase inhibitor deficiency - type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
351537018	Hereditary angioneurotic oedema - type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351538011	Hereditary angio-oedema - type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351540018	Hereditary angioneurotic edema - type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622964016	Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2161482011	Hereditary angioedema - type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2959971000005110	hereditær C1-esterase-inhibitor-mangel i form af utilstrækkelig faktor	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)