| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Autoimmune process |
Is a |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
|
| An imbalance between proinflammatory and anti-inflammatory responses to an infection. |
Is a |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
|
| A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions. |
Is a |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
|
| Idiopathic aplastic anaemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Immunodeficiency with major anomalies |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Mast cell malignancy of lymph nodes of axilla and upper limb |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Leukocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Familial immunoglobulin hypercatabolism |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Hereditary hypersegmentation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Lymphocytopenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Immunodeficiency associated with chromosomal abnormality |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Secondary immune deficiency disorder |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Pure red cell aplasia, acquired |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Disorder of immunoglobulin |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Eosinophilia-myalgia syndrome from tryptophan (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Malignant mast cell tumor of lymph nodes of axilla AND/OR upper limb |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Reticular dysgenesis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Constitutional aplastic anemia with malformation |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Disorder of immune function (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| anémie hémolytique auto-immune avec érythrophagocytose (Fc portion de l'auto-anticorps) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Lichenoid chronic graft-versus-host disease (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| déficit en immunoglobulines |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Non malignant mast cell disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Alloimmune neonatal neutropenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Humoral immunologic aplastic anemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| X-linked lymphoproliferative syndrome |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Haemophagocytic lymphohistiocytosis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| AL amyloidosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Light chain deposition disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Severe combined immunodeficiency with low T- and B-cell numbers |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Chronic disease of immune function (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Malignant mast cell tumor of lymph nodes of head, face AND/OR neck |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Aplasia of thymus gland with immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Complement receptor 1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Disorder of increased production of immunoglobulin protein (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Infectious lymphocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Severe combined immunodeficiency disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| érythème au froid associé aux hémolysines |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Mixed cryofibrinogenemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Chronic hypoplastic neutropenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Severe combined immunodeficiency with low or normal B-cell numbers (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Chromosome 22 abnormalities with hypogammaglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Hypopigmentation-immunodeficiency disease |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Complement 5 dysfunction |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| SCID due to absent IL-2 receptor |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Aplastic anemia due to drugs |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Myeloperoxidase deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Specific granule deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Monosomy 22 and absence of immunoglobulin A |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Aplastic anemia associated with metabolic alteration (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Malignant mast cell tumor of lymph nodes of inguinal region AND/OR lower limb |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Alpha heavy chain disease (clinical) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Complement 1q deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
8 |
| leucémie mastocytaire aleucémique |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Deletion of X-chromosome and hypogammaglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Agranulocytosis co-occurrent with human immunodeficiency virus infection |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Autosomal recessive severe combined immunodeficiency disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Benign combined immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Autosomal recessive hyperimmunoglobulin M syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Pancytopenia-dysmelia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Reactive mastocytosis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| déficit en complexe majeur d'histocompatibilité classe I |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Microcephaly, normal intelligence and immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Chronic granulomatous disease, type III |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Malignant mast cell tumor of lymph nodes of multiple sites |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Granulocyte abnormality due to immune defect |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Constitutional eosinopenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Phagocytic cell defect |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Pseudoneutrophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Triple X syndrome, epilepsy, and hypogammaglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Thymic aplasia or dysplasia with immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Gammopathy (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Alpha heavy chain disease, enteric form (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Disorder of phagocytic cell number |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Essential mixed cryoglobulinaemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Acquired immune deficiency syndrome complicating childbirth (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Complement 2 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| 18-p syndrome with associated immunodeficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Hemophagocytic lymphohistiocytosis due to infection (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Dose-related drug-induced neutropenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Immunodeficiency associated with multiple organ system abnormalities |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Severe combined immunodeficiency with reticular dysgenesis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Neutrophil cytomatrix disorder |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Polyclonal hypergammaglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Age-related immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Cryopathy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Malignant mast cell tumor of extranodal AND/OR solid organ site |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titers in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lipochrome histiocytosis - familial |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]