Code System Concept

Code System Concept

Code System Concept Code	89655007
Code System Concept Name	Congenital neutropenia (disorder)
Code System Preferred Concept Name	Congenital neutropenia (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
148639013	Congenital neutropenia	Active	Synonym	false	false
148640010	Kostmann's syndrome	Active	Synonym	false	false
148641014	Severe infantile genetic neutropenia	Active	Synonym	false	false
148642019	Severe infantile genetic agranulocytosis	Active	Synonym	false	false
508614010	Primary neutropenia	Active	Synonym	false	false
508615011	Infantile genetic agranulocytosis	Active	Synonym	false	false
508616012	Severe congenital neutropenia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Immunosuppressed Condition	6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital anomaly of the hematopoietic system (disorder) {40888008 , SNOMED-CT } Congenital immunodeficiency disease (disorder) {36138009 , SNOMED-CT } Disorder of phagocytic cell number (disorder) {234574006 , SNOMED-CT } Hereditary cancer-predisposing syndrome (disorder) {699346009 , SNOMED-CT } Neutropenic disorder (disorder) {303011007 , SNOMED-CT } Quantitative abnormality of granulocytes (disorder) {105602005 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Congenital neutropenia (disorder) {89655007 , SNOMED-CT }

Parent/Child (Relationship Type)

Autosomal dominant severe congenital neutropenia (disorder) {770947009 , SNOMED-CT } Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder) {783201001 , SNOMED-CT } Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder) {783200000 , SNOMED-CT } Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) {783058007 , SNOMED-CT } Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder) {783199003 , SNOMED-CT } Congenital agranulocytosis NEC (disorder) {234415003 , SNOMED-CT } Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) {775909002 , SNOMED-CT } Kostmann syndrome (disorder) {770942003 , SNOMED-CT } Neutropenia, monocytopenia, deafness syndrome (disorder) {725137007 , SNOMED-CT } Onycho-tricho-dysplasia neutropenia syndrome (disorder) {1003381002 , SNOMED-CT } Periodontitis co-occurrent with infantile genetic agranulocytosis (disorder) {709535007 , SNOMED-CT } Reticular dysgenesis (disorder) {111584000 , SNOMED-CT } Severe combined immunodeficiency with reticular dysgenesis (disorder) {190996002 , SNOMED-CT } Shwachman syndrome (disorder) {89454001 , SNOMED-CT } Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) {234571003 , SNOMED-CT } X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) {782759001 , SNOMED-CT } X-linked severe congenital neutropenia (disorder) {718882006 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,

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