449853003: Interleukin-12 deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Interleukin-12 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2012. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2912968010 Interleukin-12 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2913196010 Interleukin-12 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5377641000241117 déficit en interleukine-12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2373351000195115 Interleukin-12-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2373361000195117 Interleukin-12-Defizienz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Interleukin-12 deficiency	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Interleukin-12 deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Interleukin-12 deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.	Due to	False	Interleukin-12 deficiency	Inferred relationship	Some	1

This concept is not in any reference sets