1197366007: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696049010	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696050010	Autosomal recessive primary immunodeficiency with defective spontaneous NK (natural killer) cell cytotoxicity	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696051014	CD16 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696052019	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399734011	A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399735012	A rare, genetic primary immunodeficiency characterised by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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