44940001: Adenosine deaminase 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

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

74969018 Adenosine deaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

74970017 ADA deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

74971018 Adenosine aminohydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

782124013 Adenosine deaminase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1230164018 ADA - Adenosine aminohydrolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2478708016 Deficiency of adenosine deaminase en Synonym (core metadata concept) 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 deficiency	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	Severe combined immunodeficiency disease	false	Inferred relationship	Some
Adenosine deaminase deficiency	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Adenosine deaminase deficiency	Severity	Severe	false	Inferred relationship	Some
Adenosine deaminase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Adenosine deaminase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Adenosine deaminase deficiency	Finding site	Body system structure	true	Inferred relationship	Some	2
Adenosine deaminase deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	Autosomal recessive severe combined immunodeficiency disease (disorder)	true	Inferred relationship	Some
Adenosine deaminase deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adenosine deaminase 2 deficiency	Is a	True	Adenosine deaminase deficiency	Inferred relationship	Some

This concept is not in any reference sets