Code System Concept

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Code System Concept

Code System Concept Code	783200000
Code System Concept Name	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder)
Code System Preferred Concept Name	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 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Superseded By Concept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	07/31/2019
SDO Date Created	07/31/2019
SDO Date Revised	07/31/2019
Description	A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3758065018	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency	Active	Synonym	false	false
3758066017	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	Active	Synonym	false	false
3758068016	Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital neutropenia (disorder) {89655007 , 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,