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1186654001: Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4667211018 Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667212013 Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667213015 A rare genetic immune disease characterized by early onset of recurrent bacterial, viral and fungal infections, chronic inflammatory bowel disease, gastritis and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667214014 A rare genetic immune disease characterised by early onset of recurrent bacterial, viral and fungal infections, chronic inflammatory bowel disease, gastritis and inflammatory polyarthritis. Patients present with diarrhoea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinaemia. 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
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Autoimmune leukopenia true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Chronic digestive system disorder false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Inflammatory disorder of digestive tract false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Chronic infectious disease false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Chronic arthropathy false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Chronic disease of immune function (disorder) false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Hereditary white blood cell disorder (disorder) true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Inflammatory polyarthropathy (disorder) true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Lymphocytopenia true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Recurrent disease false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Primary immune deficiency disorder true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Disorder of intestine false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Clinical course Recurrent true Inferred relationship Some 4
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Some 5
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Interprets Lymphocyte count true Inferred relationship Some 3
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Finding site Intestinal structure true Inferred relationship Some 1
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 1
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 2
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 2
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Inflammation of intestine (disorder) true Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Infectious disease false Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a Recurrent infectious disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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