Code System Concept

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Code System Concept

Code System Concept Code	1179285006
Code System Concept Name	Combined immunodeficiency due to moesin deficiency (disorder)
Code System Preferred Concept Name	Combined immunodeficiency due to moesin 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Superseded By Concept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	09/01/2022
SDO Date Created	10/31/2021
SDO Date Revised	10/31/2021
Description	A rare combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens and fluctuating neutropenia.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4650521011	X-linked moesin-associated immunodeficiency	Active	Synonym	false	false
4650523014	MSN (moesin) related combined immunodeficiency	Active	Synonym	false	false
4650524015	Combined immunodeficiency due to moesin deficiency	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) Combined immunodeficiency disease (disorder) {442459007 , SNOMED-CT } X-linked recessive hereditary disease (disorder) {1162976004 , 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,