Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	783058007
Code System Concept Name	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)
Code System Preferred Concept Name	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 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Superseded By Concept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 increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3757270017	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency	Active	Synonym	false	false
3757273015	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Active	Synonym	false	false
3757274014	Severe congenital neutropenia type 4	Active	Synonym	false	false
3757276011	Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome	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,