| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chronic disease of tonsils AND/OR adenoids |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Malayan elephantiasis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic lymphadenitis |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic granulomatous disease (disorder) |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic localised mucocutaneous candidiasis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic diffuse mucocutaneous candidiasis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Hepatosplenic schistosomiasis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic Timorian filarial lymphadenitis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic mesenteric lymphadenitis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic Malayan filarial lymphadenitis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Cutaneous mastocytosis (disorder) |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic inflammation of axillary lymph node (disorder) |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic inflammation of cervical lymph node (disorder) |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic inguinal lymphadenitis |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Actinic reticuloid |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Episodic angioedema with eosinophilia (disorder) |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Hereditary periodic fever (disorder) |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause. |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Is a |
False |
Chronic disease of immune structure (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 |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Chronic congestive splenomegaly (disorder) |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Adult onset Still's disease |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Schnitzler syndrome (disorder) |
Is a |
True |
Chronic disease of immune structure (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 |
Chronic disease of immune structure (disorder) |
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 |
Chronic disease of immune structure (disorder) |
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 |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| PAPASH syndrome |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| A rare autoinflammatory syndrome with characteristics of a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently. |
Is a |
False |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
| Persistent generalised lymphadenopathy |
Is a |
True |
Chronic disease of immune structure (disorder) |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]