Code System Concept

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Code System Concept

Code System Concept Code	1342372000
Code System Concept Name	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency (disorder)
Code System Preferred Concept Name	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 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Superseded By Concept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	09/01/2024
SDO Date Created	07/01/2024
SDO Date Revised	07/01/2024
Description	A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5378422015	AR-HIES (autosomal recessive hyperimmunoglobulin E syndrome) due to ZNF341 deficiency	Active	Synonym	false	false
5378423013	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency	Active	Synonym	false	false
5378424019	Autosomal recessive hyper-IgE syndrome due to ZNF341 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)

Atopic dermatitis (disorder) {24079001 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Chronic disease of immune function (disorder) {413834006 , SNOMED-CT } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Chronic mucocutaneous candidiasis (disorder) {234568006 , SNOMED-CT } Combined immunodeficiency disease (disorder) {442459007 , SNOMED-CT } Hereditary disorder of immune system (disorder) {363138005 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Immunoglobulin above reference range (finding) {131136006 , 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,