| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Lipochrome histiocytosis - familial |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Purine-nucleoside phosphorylase deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Leukoerythroblastotic reaction |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Transient immunodeficiency of infancy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Immunodeficiency secondary to neoplasm |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Myelokathexis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Anti-human leukocyte antigen hyperimmunization (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Defective phagocytic cell opsonisation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Dysgammaglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cutaneous mastocytosis, adult form |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| maladie des chaînes lourdes epsilon |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Allergic eosinophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked immunoneurologic disorder |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Post-splenectomy leukocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Familial hemophagocytic lymphohistiocytosis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Immunodeficiency secondary to trauma |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Secondary cryofibrinogenemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Periodontitis co-occurrent with leukocyte adhesion deficiency |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chromosome 18 syndromes and antibody deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| T lymphocyte disorder |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Mannan-binding protein deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Neutropaenia due to and following chemotherapy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Combined immunodeficiency due to CD3gamma deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Drug-induced immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Idiopathic eosinophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Immunodeficiency caused by corticosteroid (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| IgG monoclonal gammopathy of uncertain significance |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Chronic neutrophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Constitutional aplastic anaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Revesz syndrome (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Defective phagocytic cell chemotaxis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Neutropenia associated with autoimmune disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive lymphoproliferative disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Benign monoclonal gammopathy (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Graft versus host disease |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency due to radiotherapy |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Agranulocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Periodontitis co-occurrent with acquired neutropenia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Phagocytic cell dysfunction |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Defective phagocytic cell adhesion |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital immunodeficiency disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Immunoglobulin G deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Light chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Neutropenia, monocytopenia, deafness syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| syndrome d'hyperimmunoglobulinémie E |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Indolent systemic mastocytosis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hereditary angio-oedema |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Immunodeficiency secondary to chemotherapy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Predominant humoral immune deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Severe combined immunodeficiency with maternofetal engraftment |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Monoclonal B-cell lymphocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Leukemoid reaction of the newborn |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Mast cell malignancy (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Gamma heavy chain disease (clinical) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Polyclonal gammopathy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Eosinophilia myalgia syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Disorder of neutrophil chemotaxis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acquired aplastic anemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Monoclonal cryoimmunoglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Radiation agranulocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Leucocyte adhesion deficiency - type 2 |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Shwachman syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Disorder involving basophils and mast cells |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Febrile neutropenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Qualitative abnormality of granulocyte |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Immunodeficiency caused by long term therapeutic use of drug (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Urticaria pigmentosa, multiple nodules AND/OR plaques |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Tuftsin deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Common variable immunodeficiency with autoantibodies to B- or T-cells (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Chronic benign neutropenia of childhood |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Kappa light chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Tropical pulmonary eosinophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Bullous cutaneous mastocytosis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Defective phagocytic cell killing (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Macroglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Disorder of basophils (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neutrophilia disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cutaneous mastocytosis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Immunoglobulin heavy chain deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Light chain monoclonal gammopathy of uncertain significance |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Hereditary disorder of immune system |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cyclical neutropenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Functional disorders of polymorphonuclear neutrophils |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Leukocyte glucose-6-phosphate dehydrogenase deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Waldenström macroglobulinemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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