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1173999006: Interleukin 21 related infantile inflammatory bowel disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4639190012 Interleukin 21 related infantile inflammatory bowel disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639191011 IL21-related infantile inflammatory bowel disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4639192016 Interleukin 21 related infantile inflammatory bowel disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639193014 A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4639194015 A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal. 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
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a Inflammatory bowel disease true Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a Primary immune deficiency disorder true Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) Occurrence Infancy true Inferred relationship Some 1
Interleukin 21 related infantile inflammatory bowel disease (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Interleukin 21 related infantile inflammatory bowel disease (disorder) Pathological process (attribute) Dysregulated host response 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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