1351853000: Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)
• \Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)
• \Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)
• \Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5415483013	Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415484019	NCKAP1L-associated hyperinflammatory disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415485018	Familial hyperinflammatory lymphoproliferative immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415486017	HEM1 deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415487014	A rare autoinflammatory syndrome with immune deficiency characterised by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteraemia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415488016	A rare autoinflammatory syndrome with immune deficiency characterized by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteremia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start