Code System Concept

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Code System Concept

Code System Concept Code	723384004
Code System Concept Name	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)
Code System Preferred Concept Name	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A genetic variant of mendelian susceptibility to mycobacterial diseases characterised by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leucocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3424324012	Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency	Active	Synonym	false	false
3424325013	Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency	Active	Synonym	false	false
3424326014	Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Immunosuppressed Condition	6
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autoimmune disease (disorder) {85828009 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Hereditary disorder of immune system (disorder) {363138005 , SNOMED-CT } Immunodeficiency associated with chromosomal abnormality (disorder) {234632005 , SNOMED-CT } Mendelian susceptibility to mycobacterial disease (disorder) {1172895006 , SNOMED-CT } Type I interferon-associated autoinflammatory disease (disorder) {1295193002 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,