987840791000119102: Adenosine deaminase 2 deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease (disorder)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency

\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease (disorder)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4564957015 Adenosine deaminase 2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564958013 ADA2 (adenosine deaminase 2) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4564959017 Adenosine deaminase 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adenosine deaminase 2 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Adenosine deaminase 2 deficiency	Is a	Adenosine deaminase deficiency	true	Inferred relationship	Some
Adenosine deaminase 2 deficiency	Finding site	Body system structure	true	Inferred relationship	Some	1
Adenosine deaminase 2 deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

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This concept is not in any reference sets