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

• SNOMED CT Concept\Clinical finding\...
• \General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile illness\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile illness\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Febrile illness\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Disorder of immune function\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
• \Disease\Recurrent disease\Hereditary periodic fever\CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
4667436010	CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4667437018	CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4667438011	CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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