Severe combined immunodeficiency due to CTPS1 deficiency 763623001

SNOMED CT code

SNOMED code

763623001

name

Severe combined immunodeficiency due to CTPS1 deficiency

status

active

date introduced

2018-07-31

fully specified name(s)

Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)

synonyms

Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency
Severe combined immunodeficiency due to CTPS1 deficiency

attributes - group2

Pathological process

Abnormal immune process 769247005

attributes - group1

Finding site

Immune system structure 116003000

Occurrence

Congenital 255399007

parents

Severe combined immunodeficiency with low T- and B-cell numbers 190997006
Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of immune structure 414030009
Severe combined immunodeficiency with low T- and B-cell numbers 190997006
Severe combined immunodeficiency due to CTPS1 deficiency 763623001

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
Severe combined immunodeficiency due to CTPS1 deficiency 763623001

ancestors

sorted most to least specific

Severe combined immunodeficiency with low T- and B-cell numbers 190997006
Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009
Severe combined immunodeficiency disease 31323000
Disorder of immune structure 414030009
Autosomal recessive hereditary disorder 85995004
Congenital immunodeficiency disease 36138009
Hereditary disorder of immune system 363138005
Combined immunodeficiency disease 442459007
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Primary immune deficiency disorder 58606001
Congenital disease 66091009
Immunodeficiency disorder 234532001
Disorder of body system 362965005
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

Disorder of body system 362965005

Disorder of immune structure 414030009

Severe combined immunodeficiency with low T- and B-cell numbers 190997006

Severe combined immunodeficiency due to CTPS1 deficiency 763623001

SNOMED CT code