Code System Concept

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Code System Concept

Code System Concept Code	1197594000
Code System Concept Name	Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder)
Code System Preferred Concept Name	Periodic fever, infantile enterocolitis, autoinflammatory 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Superseded By Concept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	09/01/2022
SDO Date Created	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4697302013	Periodic fever, infantile enterocolitis, autoinflammatory syndrome	Active	Synonym	false	false
4697304014	NLRC4-related infantile enterocolitis, autoinflammatory syndrome	Active	Synonym	false	false
4697305010	NLRC4-related macrophage activation syndrome	Active	Synonym	false	false
4697306011	NLRC4-related autoinflammatory syndrome with macrophage activation syndrome	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 dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Chronic digestive system disorder (disorder) {128284006 , SNOMED-CT } Chronic disease of immune function (disorder) {413834006 , SNOMED-CT } Chronic disease of immune structure (disorder) {413835007 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Hereditary periodic fever (disorder) {402790006 , SNOMED-CT } Hereditary white blood cell disorder (disorder) {414395005 , SNOMED-CT } Inflammation of small intestine and colon (disorder) {43752006 , SNOMED-CT } Macrophage activation syndrome (disorder) {430478003 , 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,