1197477000: Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to LRBA deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to LRBA deficiency
• \Disorder of immune function\Autoimmune disease\Combined immunodeficiency due to LRBA deficiency

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696489012	Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696490015	Combined immunodeficiency due to LRBA deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4696491016	Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4696492011	A rare genetic primary immunodeficiency characterised by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including haemolytic anaemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells and hypogammaglobulinaemia.	en	Definition	Active	Case sensitive	SNOMED CT core
4696493018	A rare genetic primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells and hypogammaglobulinemia.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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