Adenosine deaminase deficiency 44940001

SNOMED CT code

SNOMED code

44940001

name

Adenosine deaminase deficiency

status

active

date introduced

2002-01-31

fully specified name(s)

Adenosine deaminase deficiency (disorder)

synonyms

ADA - Adenosine aminohydrolase deficiency
Deficiency of adenosine deaminase
Adenosine deaminase deficiency
ADA deficiency
Adenosine aminohydrolase deficiency

attributes - group3

Pathological process

Abnormal immune process 769247005

attributes - group2

Finding site

Body system structure 91689009

attributes - group1

Occurrence

Congenital 255399007

parents

Specific enzyme deficiency 129456006
Disorder of purine metabolism 32612005
Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009

children

Adenosine deaminase 2 deficiency 987840791000119102

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Enzymopathy 78548001
Specific enzyme deficiency 129456006
Adenosine deaminase deficiency 44940001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of purine and pyrimidine metabolism 238006008
Disorder of purine metabolism 32612005
Adenosine deaminase deficiency 44940001

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
Adenosine deaminase deficiency 44940001

ancestors

sorted most to least specific

Specific enzyme deficiency 129456006
Disorder of purine metabolism 32612005
Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009
Enzymopathy 78548001
Disorder of purine and pyrimidine metabolism 238006008
Severe combined immunodeficiency disease 31323000
Autosomal recessive hereditary disorder 85995004
Metabolic disease 75934005
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

Metabolic disease 75934005

Enzymopathy 78548001

Specific enzyme deficiency 129456006

Adenosine deaminase deficiency 44940001

SNOMED CT code