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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Vital signs finding (finding)\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder)
• \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
5399522017	A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present 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
5399523010	A rare genetic autoinflammatory syndrome with immune deficiency characterised by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present 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
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
5399522017	A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present 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
5399523010	A rare genetic autoinflammatory syndrome with immune deficiency characterised by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present 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
3387331001000110	CEBPE-assoziierte Autoinflammation-Immundefekt- neutrophile Funktionsstörung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760151000241117	syndrome d'auto-inflammation, d'immunodéficience et de dysfonctionnement des neutrophiles associé à la protéine de liaison à l'amplificateur CCAAT epsilon	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760151000241117	syndrome d'auto-inflammation, d'immunodéficience et de dysfonctionnement des neutrophiles associé à la protéine de liaison à l'amplificateur CCAAT epsilon	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387331001000110	CEBPE-assoziierte Autoinflammation-Immundefekt- neutrophile Funktionsstörung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start