Code System Concept

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Code System Concept

Code System Concept Code	778004006
Code System Concept Name	Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)
Code System Preferred Concept Name	Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)
Concept Status	Published
Concept Status Date	09/01/2022
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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3736376014	Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Active	Synonym	false	false
3736377017	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Active	Synonym	false	false
3736378010	APLAID - autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts No parent concepts present.	Other Relationships No other relationships present.
Child Concepts No child concepts present.

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Page last reviewed:December 5, 2018
Page last updated:December 5, 2018
Content source:
- Centers for Disease Control and Prevention,

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