778028008: Immunodeficiency due to CD25 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5405567016	A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405568014	A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterised by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737322019	Interleukin-2 receptor alpha chain deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737323012	Immunodeficiency due to CD25 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737324018	Immunodeficiency due to CD25 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
998501000172110	déficit immunitaire par déficit en CD25	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1019691000172116	déficit en chaîne alpha du récepteur de l'interleukine-2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385471001000112	Immundefekt durch CD25-Mangel	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)

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