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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763682018	Combined immunodeficiency due to IL21R deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763683011	Combined immunodeficiency due to interleukin 21 receptor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
10594001000172110	immunodéficience combinée due à un déficit en IL21R (interleukin 21 receptor)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10594011000172113	déficience immunitaire combinée due à un déficit en IL21R (interleukin 21 receptor)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10594021000172115	déficit immunitaire combiné par déficit en IL21R (interleukin 21 receptor)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4356821000172113	gecombineerde immunodeficiëntie door deficiëntie van interleukine-21-receptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4356831000172111	gecombineerde immunodeficiëntie door IL21R-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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