1173999006: Interleukin 21 related infantile inflammatory bowel disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\IL21-related infantile inflammatory bowel disease
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\IL21-related infantile inflammatory bowel disease
• \Disorder of immune function\Inflammatory bowel disease\IL21-related infantile inflammatory bowel disease
• \Inflammatory disorder\Inflammatory bowel disease\IL21-related infantile inflammatory bowel disease
• \Systemic disease\Inflammatory bowel disease\IL21-related infantile inflammatory bowel disease

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4639190012	Interleukin 21 related infantile inflammatory bowel disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4639191011	IL21-related infantile inflammatory bowel disease	en	Synonym	Active	Case sensitive	SNOMED CT core
4639192016	Interleukin 21 related infantile inflammatory bowel disease	en	Synonym	Active	Case insensitive	SNOMED CT core
4639193014	A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.	en	Definition	Active	Case sensitive	SNOMED CT core
4639194015	A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.	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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