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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy

\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy

\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy
\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy

\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Type I interferonopathy	Is a	Monogenic autoinflammatory syndrome (disorder)	true	Inferred relationship	Some
Type I interferonopathy	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Type I interferonopathy	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Type I interferonopathy	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aicardi Goutieres syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
STING-associated vasculopathy with onset in infancy (disorder)	Is a	True	Type I interferonopathy	Inferred relationship	Some
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.	Is a	True	Type I interferonopathy	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.	Is a	True	Type I interferonopathy	Inferred relationship	Some
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.	Is a	True	Type I interferonopathy	Inferred relationship	Some
A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.	Is a	True	Type I interferonopathy	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	True	Type I interferonopathy	Inferred relationship	Some
Singleton-Merten syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
Trichohepatoenteric syndrome	Is a	True	Type I interferonopathy	Inferred relationship	Some
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 ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.	Is a	True	Type I interferonopathy	Inferred relationship	Some
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.	Is a	True	Type I interferonopathy	Inferred relationship	Some
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	Is a	True	Type I interferonopathy	Inferred relationship	Some
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	Some
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	Is a	True	Type I interferonopathy	Inferred relationship	Some
A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.	Is a	True	Type I interferonopathy	Inferred relationship	Some

This concept is not in any reference sets