| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Psoriasis of nail |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Psoriatic nail dystrophy (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Psoriatic nail pitting |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Hypopigmentation-immunodeficiency disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Benign multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Benign multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Malignant multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Malignant multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Secondary progressive multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Secondary progressive multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Relapsing remitting multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Relapsing remitting multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Primary progressive multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Primary progressive multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Cutaneous mastocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Localized extracutaneous mastocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Tuberculous phlyctenular keratoconjunctivitis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Phlyctenular keratoconjunctivitis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| 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 |
Some |
7 |
| Progressive relapsing multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Progressive relapsing multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Telangiectasia macularis eruptiva perstans |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Phlyctenular keratoconjunctivitis caused by staphylococcus toxin |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Mast cell gastritis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Progressive multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Progressive multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Primary systemic amyloidosis associated with occult plasma cell dyscrasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Amyloid light chain amyloidosis due to multiple myeloma (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Acute relapsing multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lymphocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Acquired lymphocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Acrodermatitis continua of Hallopeau |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Constitutional aplastic anemia with malformation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Aplastic anaemia due to chronic disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Aplastic anemia associated with pregnancy (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
8 |
| 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 |
| Aplastic anemia caused by antineoplastic agent |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
9 |
| leucémie mastocytaire aleucémique |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Deficiency of immunoglobulin A with immunoglobulin G subclass deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Subcorneal pustular dermatosis with paraproteinemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Aplastic anemia due to radiation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Graft versus host disease of liver |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Graft versus host disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Acute graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Chronic graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lichenoid chronic graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Sclerodermoid chronic graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Materno-fetal graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Graft versus host disease of skin (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Chronic graft versus host disease after transplantation of bone marrow |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Hereditary C1 esterase inhibitor deficiency - deficient factor |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Episodic angioedema with eosinophilia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Generalized pustular psoriasis, exanthematous type |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Generalized pustular psoriasis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Generalized pustular psoriasis of pregnancy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Juvenile pustular psoriasis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Infantile pustular psoriasis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Acute generalized pustular psoriasis de novo (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Eosinophilic keratitis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Essential mixed cryoglobulinaemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Essential mixed cryoglobulinaemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Familial cold urticaria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Eosinopenia due to infectious disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Hypertrophic pachymeningitis due to disorder of immune function |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Erythema nodosum due to systemic fungal infection (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Pustular bacterid |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Pustular bacterid |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Lymphocytopenia due to COVID-19 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Lymphopenia due to infection |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Phlyctenular keratoconjunctivitis of right eye (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Bilateral phlyctenular keratoconjunctivitis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Phlyctenular keratoconjunctivitis of left eye (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Eosinophilic myopathy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Eosinophilic myositis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Eosinophil count above reference range (finding) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral Achilles tendon contracture, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Eosinophilia of peritoneal fluid (finding) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Eosinophilia due to infectious disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Lymphocytic hypoplasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Necrobiotic xanthogranuloma with paraproteinemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
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