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


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
4696053012 A rare genetic primary immunodeficiency with characteristics of recurrent respiratory and skin viral infections (Ebstein-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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity est un(e) (attribut) Primary immune deficiency disorder (disorder) true Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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