PLCG2-associated antibody deficiency and immune dysregulation 773646003

SNOMED CT code

SNOMED code

773646003

name

PLCG2-associated antibody deficiency and immune dysregulation

status

active

date introduced

2019-01-31

fully specified name(s)

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

synonyms

PLCG2-associated antibody deficiency and immune dysregulation
PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
FACU - familial atypical cold urticaria
Familial cold urticaria with common variable immunodeficiency

attributes - group1

Causative agent

Low temperature 285686007

Associated morphology

Urticaria 64305001

Finding site

Skin structure 39937001

attributes - group2

Pathological process

Abnormal immune process 769247005

Associated morphology

Inflammatory morphology 409774005

Finding site

Immune system structure 116003000

attributes - group4

Clinical course

Recurrent 255227004

attributes - group3

Interprets

Body temperature 386725007

Has interpretation

Above reference range 281302008

parents

Familial cold urticaria 238687000
Primary immune deficiency disorder 58606001

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Familial cold urticaria 238687000
PLCG2-associated antibody deficiency and immune dysregulation 773646003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of immune function 414029004
Immunodeficiency disorder 234532001
Primary immune deficiency disorder 58606001
PLCG2-associated antibody deficiency and immune dysregulation 773646003

ancestors

sorted most to least specific

Familial cold urticaria 238687000
Primary immune deficiency disorder 58606001
Autosomal dominant hereditary disorder 11164009
Immunodeficiency disorder 234532001
Hereditary disorder of immune system 363138005
Hereditary disorder of the integument 363185004
Cryopyrin associated periodic syndrome 430079001
Urticaria caused by cold 74774004
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Hereditary periodic fever 402790006
Urticaria 126485001
Cold-induced dermatosis 238506004
Hereditary disease 32895009
Disorder characterized by fever 416113008
Angioedema and/or urticaria 404177007
Recurrent disease 58184002
Monogenic autoinflammatory syndrome 724593005
General effects of low temperature 241967006
Edematous skin 95322002
Disorders of skin induced by physical agents 373591006
Genetic disease 782964007
Body temperature above reference range 50177009
Disorder characterized by edema 118654009
Autoinflammatory disease 42111000175103
Effect of exposure to physical force 419026008
Disorder of skin 95320005
Disorder of immune function 414029004
Abnormal body temperature 123979008
Edema 267038008
Inflammatory disorder of immune system 363177008
Skin finding 106076001
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Body temperature finding 105723007
Inflammation of specific body systems 363171009
Disorder of immune structure 414030009
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Vital signs finding 118227000
Disorder of body system 362965005
Temperature-associated finding 301343009
Inflammation of specific body structures or tissue 363170005
General finding of soft tissue 248402002
General body state finding 82832008
Inflammatory disorder 128139000
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Integumentary system finding 106077005

Disorder of integument 128598002

Hereditary disorder of the integument 363185004

Familial cold urticaria 238687000

PLCG2-associated antibody deficiency and immune dysregulation 773646003

SNOMED CT code