| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Immune system excision |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system incision |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system measurement of physiology/function |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system physical examination |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system repair |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system surgical procedure |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system transplantation |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Surgical implantation to lymphatic system |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Immune system evaluation (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Hereditary angioedema without abnormal C1 inhibitor levels or function. One type has been found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. Mechanisms include mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immunoproliferative small intestinal disease (clinical) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system physical examination |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system repair |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system surgical procedure |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system measurement of physiology/function |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system incision |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system transplantation |
Procedure site - Indirect (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system endoscopy |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system excision |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Inflammatory disorder of immune system |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Biopsy of immune system structure |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Reactive immunoproliferative disease |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Site specific immune system surgical procedure |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system evaluation (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system diagnostic imaging procedure |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system destructive procedure |
Procedure site - Direct (attribute) |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Traumatic injury of immune system |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| CD4 T lymphocyte deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system transplantation |
Procedure site - Indirect (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system incision |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immune system excision |
Procedure site - Direct (attribute) |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Lambda light chain deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Kappa light chain deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Acquired immune deficiency syndrome complicating childbirth (disorder) |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
|
| Nakajo-Nishimura syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital acquired immune deficiency syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Congenital human immunodeficiency virus positive status syndrome |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Congenital human immunodeficiency virus infection |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
5 |
| Cytokine-associated toxicity (disorder) |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Periodontitis co-occurrent with leukocyte adhesion deficiency |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal agammaglobulinaemia with absent B-cells |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| AIDS |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Acquired immune deficiency syndrome complicating childbirth (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Infectious disorder of immune system |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immunodeficiency caused by long term therapeutic use of drug (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
|
| A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
|
| Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| X-linked agammaglobulinemia |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| X-linked agammaglobulinemia with growth hormone deficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Graft versus host disease of skin (disorder) |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Chronic graft versus host disease after transplantation of bone marrow |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Infection caused by Isospora co-occurrent with acquired immunodeficiency syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Infection caused by Coccidia co-occurrent with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Infection caused by Toxoplasma gondii co-occurrent with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Microsporidiosis associated with acquired immunodeficiency syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
7 |
| 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. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Congenital human immunodeficiency virus positive status syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Hennekam lymphangiectasia-lymphedema syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
5 |
| Severe combined immunodeficiency with reticular dysgenesis (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Deficiency of immunoglobulin A with immunoglobulin G subclass deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| anémie hémolytique auto-immune avec érythrophagocytose (Fc portion de l'auto-anticorps) |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| X-linked lymphoproliferative syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immunoglobulin G deficiency due to multiple myeloma |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immunoglobulin G deficiency due to monoclonal gammopathy of undetermined significance (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Normal immune system function (finding) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Acquired immunodeficiency syndrome-associated disorder (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Vacuolar myelopathy |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Encephalitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Skin rash with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Reticulosarcoma with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Retinal vascular changes with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
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