Activated PI3K-delta syndrome 711480000

SNOMED CT code

SNOMED code

711480000

name

Activated PI3K-delta syndrome

status

active

date introduced

2015-07-31

fully specified name(s)

Activated PI3K-delta syndrome (disorder)

synonyms

Immunodeficiency 14
Activated PI3K-delta syndrome
p110-delta-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency
Activated phosphoinositide 3-kinase delta syndrome
APDS - activated PI3K-delta syndrome
PASLI - p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency

attributes - group1

Pathological process

Abnormal immune process 769247005

parents

Autosomal dominant hereditary disorder 11164009
Primary immune deficiency disorder 58606001

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Activated PI3K-delta syndrome 711480000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of immune function 414029004
Immunodeficiency disorder 234532001
Primary immune deficiency disorder 58606001
Activated PI3K-delta syndrome 711480000

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Primary immune deficiency disorder 58606001
Autosomal hereditary disorder 1899006
Immunodeficiency disorder 234532001
Hereditary disease 32895009
Disorder of immune function 414029004
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Activated PI3K-delta syndrome 711480000

SNOMED CT code