1348303000: Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Effect of exposure to physical force\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Effect of exposure to physical force\General effects of low temperature\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Oedema\Disorder characterized by edema\...
• \Angioedema and/or urticaria (disorder)\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Vital signs finding (finding)\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\General effects of low temperature\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder characterized by edema\Angioedema and/or urticaria (disorder)\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder characterized by edema\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Recurrent disease\Hereditary periodic fever (disorder)\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Systemic disease\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Edematous skin\Urticaria\Urticaria caused by cold\Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5393187010	Coagulation factor XII-associated cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5393188017	FACAS - F12-associated cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393189013	Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5393190016	F12-associated cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393191017	A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393192012	A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393187010	Coagulation factor XII-associated cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5393188017	FACAS - F12-associated cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393189013	Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5393190016	F12-associated cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393191017	A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5393192012	A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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