Code System Concept

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Code System Concept

Code System Concept Code	778024005
Code System Concept Name	Monocytopenia with susceptibility to infections (disorder)
Code System Preferred Concept Name	Monocytopenia with susceptibility to infections (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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3737272015	Monocyte-B natural killer dendritic cell deficiency syndrome	Active	Synonym	false	false
3737273013	Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection	Active	Synonym	false	false
3737274019	Monocytopenia and mycobacterial infection syndrome	Active	Synonym	false	false
3737275018	Dendritic cell, monocyte, B and NK lymphoid deficiency	Active	Synonym	false	false
3737276017	MonoMAC	Active	Synonym	false	false
3737277014	Monocytopenia with susceptibility to infections	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) Combined phagocytic defect (disorder) {234591005 , SNOMED-CT } Congenital immunodeficiency disease (disorder) {36138009 , 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,