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

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Lymphocyte count below reference range\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Lymphocyte count abnormal\Lymphocyte count below reference range\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Lymphocyte count below reference range\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Lymphocyte count below reference range\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \White blood cell number - finding\White blood cell count abnormal\...
• \Decreased blood leucocyte number\Lymphocyte count below reference range\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Decreased blood leucocyte number\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Decreased blood leucocyte number\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Lymphocyte count abnormal\Lymphocyte count below reference range\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Viscus structure finding\Abdominal organ finding\Bowel finding\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Disorder of digestive system\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Inflammatory disorder of digestive tract\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \White blood cell disorder\Non-malignant white cell disorder\Lymphocytoid disorder\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \White blood cell disorder\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \White blood cell disorder\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \White blood cell disorder\Lymphocyte disorder\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Joint finding\Inflamed joint\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Inflammatory disorder of musculoskeletal system\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of joint region\Arthropathy\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\Autoimmune disease\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Non-malignant white cell disorder\Lymphocytoid disorder\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Lymphocyte disorder\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Non-malignant white cell disorder\Lymphocytoid disorder\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Autoimmune leucopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Lymphocyte disorder\Lymphocytopenia\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Inflammatory disorder of digestive tract\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Inflammatory disorder of musculoskeletal system\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of digestive system\Inflammatory disorder of digestive tract\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Arthritis\Inflammatory polyarthropathy\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Enteritis of intestine\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Recurrent disease\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
• \Disease\Infection\Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4667212013	Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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