| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Neuromyelitis optica |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Psoriasis of nail (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Psoriatic nail dystrophy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Psoriatic nail pitting |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hypopigmentation-immunodeficiency disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Benign multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Benign multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Malignant multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Malignant multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Secondary progressive multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Secondary progressive multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Relapsing remitting multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Relapsing remitting multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Primary progressive multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Primary progressive multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cutaneous mastocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Localized extracutaneous mastocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tuberculous phlyctenular keratoconjunctivitis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Phlyctenular keratoconjunctivitis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
7 |
| Progressive relapsing multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Progressive relapsing multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
5 |
| Marburg acute multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Marburg acute multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Telangiectasia macularis eruptiva perstans |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Phlyctenular keratoconjunctivitis caused by staphylococcus toxin |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Mast cell gastritis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| An extremely rare type of severe combined immunodeficiency syndrome (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 |
Existential restriction modifier (core metadata concept) |
4 |
| Progressive multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Progressive multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS 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. BS is an autosomal dominant disorder in the familial form. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Primary systemic amyloidosis associated with occult plasma cell dyscrasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Amyloid light chain amyloidosis due to multiple myeloma (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Non-amyloid monoclonal immunoglobulin deposition disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acute relapsing multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Sporadic Blau syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Sporadic Blau syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lymphocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acquired lymphocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Acrodermatitis continua of Hallopeau |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Constitutional aplastic anemia with malformation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Aplastic anemia due to chronic disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aplastic anemia associated with pregnancy (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Revesz syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Aggressive systemic mastocytosis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aplastic anemia caused by antineoplastic agent |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| leucémie mastocytaire aleucémique |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deficiency of immunoglobulin A with immunoglobulin G subclass deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Subcorneal pustular dermatosis with paraproteinemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aplastic anemia due to radiation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Graft versus host disease of liver |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Graft versus host disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acute graft-versus-host disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Chronic graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lichenoid chronic graft-versus-host disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Sclerodermoid chronic graft-versus-host disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Materno-fetal graft-versus-host disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Graft versus host disease of skin (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Chronic graft versus host disease after transplantation of bone marrow |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hereditary C1 esterase inhibitor deficiency - deficient factor |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Episodic angioedema with eosinophilia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Generalized pustular psoriasis, exanthematous type (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Generalised pustular psoriasis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Generalised pustular psoriasis of pregnancy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Juvenile pustular psoriasis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Infantile pustular psoriasis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acute generalised pustular psoriasis de novo |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Eosinophilic keratitis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Essential mixed cryoglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Essential mixed cryoglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Familial cold urticaria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Eosinopenia due to infectious disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hypertrophic pachymeningitis due to disorder of immune function (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Erythema nodosum due to systemic fungal infection (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Pustular bacterid |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pustular bacterid |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lymphocytopenia due to COVID-19 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Lymphopenia due to infection |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Phlyctenular keratoconjunctivitis of right eye |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Bilateral phlyctenular keratoconjunctivitis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Phlyctenular keratoconjunctivitis of left eye |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Eosinophilic myopathy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Eosinophilic myositis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Eosinophil count raised |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Idiopathic eosinophilic myositis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Eosinophilia of peritoneal fluid |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Eosinophilia due to infectious disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lymphocytic hypoplasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Necrobiotic xanthogranuloma with paraproteinemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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