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1197478005: Primary immunodeficiency with multifaceted aberrant lymphoid immunity (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
4696499019 Primary immunodeficiency with multifaceted aberrant lymphoid immunity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696500011 NIK deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696501010 NF-kappa-B-inducing kinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696502015 Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399750015 A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399751016 A rare, genetic, primary combined T and B cell immunodeficiency characterised by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation. 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
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a Combined immunodeficiency disease true Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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