238687000: Familial cold urticaria (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\Familial cold urticaria
\Effect of exposure to physical force\General effects of low temperature\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria

\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\Familial cold urticaria

\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria

\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria

\Oedema\Disorder characterized by edema\...

\Angioedema and/or urticaria (disorder)\Urticaria\Urticaria caused by cold\Familial cold urticaria

\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria

\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\Familial cold urticaria
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria
\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\Familial cold urticaria
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria

\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial cold urticaria
\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\Familial cold urticaria
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorders of skin induced by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial cold urticaria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Familial cold urticaria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Familial cold urticaria
\Disease\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Familial cold urticaria
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial cold urticaria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Familial cold urticaria
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial cold urticaria
\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\Familial cold urticaria
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria
\Disease\General effects of low temperature\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\Disease\Disorder characterized by edema\Angioedema and/or urticaria (disorder)\Urticaria\Urticaria caused by cold\Familial cold urticaria
\Disease\Disorder characterized by edema\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria
\Disease\Recurrent disease\Hereditary periodic fever (disorder)\Cryopyrin associated periodic syndrome (disorder)\Familial cold urticaria
\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\Familial cold urticaria
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Oedematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria

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
Familial cold urticaria	Is a	Urticaria caused by cold	true	Inferred relationship	Some
Familial cold urticaria	Finding site	Skin structure	false	Inferred relationship	Some	1
Familial cold urticaria	Associated morphology	A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema.	false	Inferred relationship	Some	1
Familial cold urticaria	Causative agent (attribute)	Cold weather	false	Inferred relationship	Some
Familial cold urticaria	Causative agent (attribute)	Friction	false	Inferred relationship	Some
Familial cold urticaria	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Familial cold urticaria	Associated morphology	inflammation	false	Inferred relationship	Some
Familial cold urticaria	Causative agent (attribute)	Low temperature	false	Inferred relationship	Some
Familial cold urticaria	Finding site	Skin structure	false	Inferred relationship	Some	1
Familial cold urticaria	Is a	Cryopyrin associated periodic syndrome (disorder)	true	Inferred relationship	Some
Familial cold urticaria	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial cold urticaria	Finding site	Skin structure	false	Inferred relationship	Some	1
Familial cold urticaria	Associated morphology	A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema.	false	Inferred relationship	Some	1
Familial cold urticaria	Finding site	Skin structure	true	Inferred relationship	Some	2
Familial cold urticaria	Causative agent (attribute)	Low temperature	true	Inferred relationship	Some	2
Familial cold urticaria	Associated morphology	Inflammatory morphology (morphologic abnormality)	false	Inferred relationship	Some	3
Familial cold urticaria	Associated morphology	A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema.	true	Inferred relationship	Some	2
Familial cold urticaria	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Familial cold urticaria	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Familial cold urticaria	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Familial cold urticaria	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Familial cold urticaria	Is a	Chronic urticaria	false	Inferred relationship	Some
Familial cold urticaria	Is a	Chronic disease of immune function (disorder)	false	Inferred relationship	Some
Familial cold urticaria	Clinical course	Recurrent	true	Inferred relationship	Some	3
Familial cold urticaria	Associated with	Fever (finding)	false	Inferred relationship	Some	4
Familial cold urticaria	Interprets	Body temperature (observable entity)	true	Inferred relationship	Some	4
Familial cold urticaria	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Familial cold urticaria	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, hereditary, immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.	Is a	True	Familial cold urticaria	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
357744017	Familial cold urticaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627601017	Familial cold urticaria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3944664016	Familial cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3944665015	FCU - familial cold urticaria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3944666019	FCAS - familial cold autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
897021000172118	FCU - familial cold urticaria	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
906561000172110	urticaire familiale au froid	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453831001000113	Kälte-Urtikaria, familiäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module