T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency 718107000

SNOMED CT code

SNOMED code

718107000

name

T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

status

active

date introduced

2016-07-31

fully specified name(s)

Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)

synonyms

T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency

attributes - group4

Pathological process

Abnormal immune process 769247005

attributes - group1

Due to

Genetic mutation 55446002

attributes - group3

Occurrence

Congenital 255399007

attributes - group2

Finding site

Body system structure 91689009

parents

Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Congenital immunodeficiency disease 36138009
Severe combined immunodeficiency disease 31323000
Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency 718107000

ancestors

sorted most to least specific

Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009
Severe combined immunodeficiency disease 31323000
Autosomal recessive hereditary disorder 85995004
Congenital immunodeficiency disease 36138009
Autosomal hereditary disorder 1899006
Hereditary disorder of immune system 363138005
Combined immunodeficiency disease 442459007
Hereditary disorder by system 363137000
Primary immune deficiency disorder 58606001
Congenital disease 66091009
Immunodeficiency disorder 234532001
Hereditary disease 32895009
Disorder of body system 362965005
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

Congenital disease 66091009

Congenital immunodeficiency disease 36138009

Severe combined immunodeficiency disease 31323000

Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009

T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency 718107000

SNOMED CT code