987840791000119102: Adenosine deaminase 2 deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

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

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

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Adenosine deaminase deficiency\Adenosine deaminase 2 deficiency (disorder)

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
5969621000241116	déficit en adénosine désaminase 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5969631000241119	déficience en ADA (adénosine désaminase) 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5969621000241116	déficit en adénosine désaminase 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5969631000241119	déficience en ADA (adénosine désaminase) 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module