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778045003: Susceptibility to viral and mycobacterial infection (disorder)


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
3737490017 Signal transducer and activator of transcription 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737491018 STAT1 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737492013 Susceptibility to viral and mycobacterial infection en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737493015 Susceptibility to viral and mycobacterial infection (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737447018 A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32. 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
Susceptibility to viral and mycobacterial infection Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Susceptibility to viral and mycobacterial infection Is a Primary immune deficiency disorder true Inferred relationship Some
Susceptibility to viral and mycobacterial infection Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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