773646003: Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)

SNOMED CT Concept\Clinical finding\...

\Effect of exposure to physical force\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Effect of exposure to physical force\General effects of low temperature\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\Edema\Disorder characterized by edema\...

\Angioedema and/or urticaria\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\General finding of soft tissue\Skin finding\Disorder of skin\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\General finding of soft tissue\Skin finding\Disorder of skin\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Integumentary system finding\Skin finding\Disorder of skin\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Integumentary system finding\Skin finding\Disorder of skin\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

\Disease\Genetic disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Febrile disorder\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of immune function\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of immune function\Hereditary disorder of immune system\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\General effects of low temperature\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder characterized by edema\Angioedema and/or urticaria\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder characterized by edema\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Recurrent disease\Hereditary periodic fever\Cryopyrin associated periodic syndrome\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorders of skin caused by physical agents\Cold-induced dermatosis\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Edematous skin\Urticaria\Urticaria caused by cold\Familial cold urticaria\Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3725358015 PLCG2-associated antibody deficiency and immune dysregulation en Synonym Active Entire term case sensitive SNOMED CT core module

3725359011 PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation en Synonym Active Entire term case sensitive SNOMED CT core module

3725360018 Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3725361019 Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation en Synonym Active Only initial character case insensitive SNOMED CT core module

3725362014 FACU - familial atypical cold urticaria en Synonym Active Entire term case sensitive SNOMED CT core module

3725363016 Familial cold urticaria with common variable immunodeficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Causative agent	Low temperature	true	Inferred relationship	Existential restriction modifier	1
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Is a	Hereditary disorder of immune system	false	Inferred relationship	Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Associated morphology	Urticaria	true	Inferred relationship	Existential restriction modifier	1
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Is a	Primary immune deficiency disorder	true	Inferred relationship	Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Is a	Familial cold urticaria	true	Inferred relationship	Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	2
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Associated morphology	Inflammatory morphology	false	Inferred relationship	Existential restriction modifier	3
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Associated morphology	Inflammatory morphology	true	Inferred relationship	Existential restriction modifier	2
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Clinical course	Recurrent	true	Inferred relationship	Existential restriction modifier	4
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Associated with	Fever	false	Inferred relationship	Existential restriction modifier	3
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Interprets	Body temperature	true	Inferred relationship	Existential restriction modifier	3
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Finding site	Structure of immune system	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3725358015	PLCG2-associated antibody deficiency and immune dysregulation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3725359011	PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3725360018	Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3725361019	Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3725362014	FACU - familial atypical cold urticaria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3725363016	Familial cold urticaria with common variable immunodeficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module