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	1197428008
Code System Concept Name	Combined immunodeficiency, enteropathy spectrum (disorder)
Code System Preferred Concept Name	Combined immunodeficiency, enteropathy spectrum (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Superseded By Concept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	09/01/2022
SDO Date Created	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare genetic disease with characteristics of multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalised T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of immunoglobulin G, immunoglobulin A, and immunoglobulin M, with elevated serum immunoglobulin E. The disease is mostly fatal in infancy or childhood.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4696302016	CID-MIA/early-onset IBD - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease	Active	Synonym	false	false
4696305019	Combined immunodeficiency, enteropathy spectrum	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Combined immunodeficiency disease (disorder) {442459007 , SNOMED-CT } Congenital atresia of intestinal tract (disorder) {93032003 , SNOMED-CT } Congenital immunodeficiency disease (disorder) {36138009 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Hereditary white blood cell disorder (disorder) {414395005 , SNOMED-CT } Inflammation of intestine (disorder) {1187638005 , SNOMED-CT } Inflammatory bowel disease (disorder) {24526004 , SNOMED-CT } Lymphocytopenia (disorder) {48813009 , 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,