362992004: Autoimmune connective tissue disorder (disorder)

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

\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune connective tissue disorder

\Disorder of connective tissue (disorder)\Autoimmune connective tissue disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autoimmune connective tissue disorder	Is a	Disorder of connective tissue (disorder)	true	Inferred relationship	Some
Autoimmune connective tissue disorder	Finding site	Connective tissue structure	false	Inferred relationship	Some
Autoimmune connective tissue disorder	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Autoimmune connective tissue disorder	Finding site	Connective tissue	false	Inferred relationship	Some
Autoimmune connective tissue disorder	Is a	Autoimmune disease	true	Inferred relationship	Some
Autoimmune connective tissue disorder	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Autoimmune connective tissue disorder	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea co-occurrent and due to systemic lupus erythematosus	Is a	False	Autoimmune connective tissue disorder	Inferred relationship	Some
Demyelination of central nervous system co-occurrent and due to systemic lupus erythematosus (disorder)	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder)	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Pericarditis secondary to systemic lupus erythematosus	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Pediatric onset Sjögren syndrome	Is a	True	Autoimmune connective tissue disorder	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	Autoimmune connective tissue disorder	Inferred relationship	Some
Systemic sclerosis	Is a	False	Autoimmune connective tissue disorder	Inferred relationship	Some
Anti-glomerular basement membrane tubulointerstitial nephritis (disorder)	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Relapsing polychondritis	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Drug-induced lupus erythematosus	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Neonatal lupus erythematosus	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Lung disease with Sjögren's disease (disorder)	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Rheumatoid episcleritis	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Diffuse interstitial rheumatoid disease of lung	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
Autoimmune interstitial keratitis (disorder)	Is a	True	Autoimmune connective tissue disorder	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	Autoimmune connective tissue disorder	Inferred relationship	Some
A rare autoinflammatory syndrome with characteristics of the presence of features of relapsing polychondritis and Behcet disease in the same individual. This includes cartilage inflammation of the ears, nose, throat and rib cage as well as recurrent oral and genital ulcers respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, and central nervous system vasculitis or in rare cases arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behcet disease in the vast majority of cases.	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some
A rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.	Is a	True	Autoimmune connective tissue disorder	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
482127010	Autoimmune connective tissue disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754766010	Autoimmune connective tissue disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
998031000241116	maladie du tissu conjonctif auto-immune	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998051000241112	trouble du tissu conjonctif auto-immun	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004101000241111	affection du tissu conjonctif auto-immune	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module