Code System Concept

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Code System Concept

Code System Concept Code	765145001
Code System Concept Name	T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder)
Code System Preferred Concept Name	T cell negative B cell positive severe combined immunodeficiency due to gamma chain 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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A form of severe combined immunodeficiency (SCID) characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhoea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinaemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3657185019	SCIDX1 - severe combined immunodeficiency X-linked	Active	Synonym	false	false
3657186018	T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency	Active	Synonym	false	false
3657188017	T-B+ severe combined immunodeficiency due to gamma chain deficiency	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Disorder of immune structure (disorder) {414030009 , SNOMED-CT } Severe combined immunodeficiency disease (disorder) {31323000 , SNOMED-CT } T-cell negative B-cell positive severe combined immunodeficiency (disorder) {1335927007 , SNOMED-CT } X-linked hereditary disease (disorder) {128430005 , SNOMED-CT } X-linked recessive hereditary disease (disorder) {1162976004 , 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,