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1351853000: 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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a Autoinflammatory disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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