| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Monocytic leukemoid reaction |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Mast cell disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Terminal component deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Transient neonatal neutropenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Asthmatic pulmonary eosinophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Leukozytenadhäsionsdefekt |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Neutrophil lactoferrin deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Secondary cryoglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Immunoglobulin light chain deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Myeloperoxidase deficiency syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Delta heavy chain disease |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Common variable agammaglobulinemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Chronic granulomatous disease, type IIA |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Complement 5 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Cryptogenic pulmonary eosinophilia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Immunoglobulin subclass deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Basophilic hyperplasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Adult G6PD deficiency of leucocytes syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lambda light chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Acquired pancytopenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Malignant mast cell sarcoma of spleen (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Disorder of complement |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
8 |
| Monocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| urticaire pigmentaire |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
|
| Urticaria pigmentosa, maculopapular type |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
|
| Eosinopenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Disorder of neutrophils (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| IgD monoclonal gammopathy of uncertain significance |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Complement 6 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lymphocytic hypoplasia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Congenital neutrophil actin dysfunction |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Quantitative disorder of neutrophils |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Complement 7 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Mast cell malignancy of lymph nodes of inguinal region and lower limb |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Combined immunoglobulin G2 and G4 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| X-linked hypogammaglobulinemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Stress neutrophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Quantitative abnormality of granulocytes |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Combined complement 6 and 7 deficiencies |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Diffuse infiltrative lymphocytosis syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Congenital hypergammaglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Immune neutropenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Febrile leukopenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Immunoglobulin-associated molecule deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Immunoglobulin G3 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| T-cell lymphocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Non-malignant lymphocyte AND/OR plasma cell disorder |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| paraprotéinémie monoclonale |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
|
| Mast cell leukaemia (clinical) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Immunoglobulin G4 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Phagocytic immunodeficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Chronic benign granulocytopenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Severe combined immunodeficiency due to absent interleukin-2 production (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Chronic granulomatous disease, type I |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Complement 8 beta chain dysfunction |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Aplastic anaemia co-occurrent with human immunodeficiency virus infection |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
9 |
| Periodontitis co-occurrent with cyclical neutropenia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Immunoglobulin G1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Doan-Wright syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Cryoglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Mast cell malignancy of lymph nodes (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Selective immunoglobulin A deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Complement 8 alpha-gamma deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Primary cryofibrinogenemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Heavy chain disease |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Properdin deficiency disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Disorder of eosinophil (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Interleukin-12 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Immunoglobulin A1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Hemophagocytic syndrome with human immunodeficiency virus infection (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Selective immunoglobulin M deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Complement 9 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| IgM monoclonal gammopathy of uncertain significance |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Factor H deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Toxic neutropenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Immunoglobulin A2 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Plasmacytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Graft versus host disease of skin (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Selective immunoglobulin G deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Complement regulatory factor defect |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Activated PI3K-delta syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Immunodeficiency with multicarboxylase deficiency |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| POEMS syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Immune reconstitution syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Congenital immunodeficiency involving the hematopoietic system |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
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