Code System Concept

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Code System Concept

Code System Concept Code	770942003
Code System Concept Name	Kostmann syndrome (disorder)
Code System Preferred Concept Name	Kostmann syndrome (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Superseded By Concept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 severe congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy have been reported in some patients. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3703544011	Severe congenital neutropenia type 3	Active	Synonym	false	false
3703546013	Kostmann syndrome	Active	Synonym	false	false
3703547016	Severe congenital neutropaenia type 3	Active	Synonym	false	false
5014348019	Infantile agranulocytosis	Active	Synonym	false	false
5014349010	Infantile genetic agranulocytosis	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) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital neutropenia (disorder) {89655007 , SNOMED-CT } Hereditary cancer-predisposing syndrome (disorder) {699346009 , 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,