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1295193002: Type I interferon-associated autoinflammatory disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5282262018 Type I interferonopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5282763010 Type 1 interferonopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5298677011 Type I interferon-associated autoinflammatory disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5298678018 Type I interferon-associated autoinflammatory disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5282262018 Type I interferonopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5282263011 Type I interferon–associated autoinflammatory disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5282762017 Type I interferon–associated autoinflammatory disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5282763010 Type 1 interferonopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5298677011 Type I interferon-associated autoinflammatory disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5298678018 Type I interferon-associated autoinflammatory disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

20 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Type I interferonopathy Is a Monogenic autoinflammatory syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Type I interferonopathy Finding site Structure of immune system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Type I interferonopathy Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Type I interferonopathy 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
Aicardi Goutieres syndrome (disorder) Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
STING-associated vasculopathy with onset in infancy Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal systemic lupus erythematosus (disorder) Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Familial chilblain lupus erythematosus Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Singleton-Merten syndrome Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Trichohepatoenteric syndrome (disorder) Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquitin specific peptidase 18 deficiency (disorder) Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. Is a True Type I interferonopathy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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