1186720006: CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

\Inflammatory disorder\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

\Chronic disease\Chronic disease of immune function (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
\Chronic disease\Recurrent disease\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4667435014 CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667436010 CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667437018 CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667438011 CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667439015 A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5320921000052115 syndrom med CEBPE-associerad autoinflammation, immunbrist och neutrofildysfunktion sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Is a	Hereditary periodic fever (disorder)	true	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Is a	Chronic disease of immune function (disorder)	true	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Clinical course	Recurrent	true	Inferred relationship	Some	2
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Associated with	Fever (finding)	true	Inferred relationship	Some	3
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4667435014	CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667436010	CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667437018	CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667438011	CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667439015	A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5320921000052115	syndrom med CEBPE-associerad autoinflammation, immunbrist och neutrofildysfunktion	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)