Code System Concept

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Code System Concept

Code System Concept Code	765327005
Code System Concept Name	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)
Code System Preferred Concept Name	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay 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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	Disease that is characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3657922015	Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Active	Synonym	false	false
3657923013	Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	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 anemia (disorder) {63565007 , SNOMED-CT } Congenital immunodeficiency disease (disorder) {36138009 , SNOMED-CT } Disorder of immune structure (disorder) {414030009 , SNOMED-CT } Hereditary disorder of cellular element of blood (disorder) {414393003 , SNOMED-CT } Hereditary disorder of immune system (disorder) {363138005 , SNOMED-CT } Immunodeficiency associated with chromosomal abnormality (disorder) {234632005 , SNOMED-CT } Sideroblastic anemia (disorder) {41841004 , 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,