784340000: Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to interleukin 21 receptor deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to interleukin 21 receptor deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763681013	Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3763682018	Combined immunodeficiency due to IL21R deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763683011	Combined immunodeficiency due to interleukin 21 receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3763684017	A rare genetic non-severe combined immunodeficiency disorder with characteristics of variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start