| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Tuberculosis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Polyneuropathy with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Failure to thrive in infant with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pneumonia with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Blindness with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Infective arthritis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Candidiasis of mouth with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Thrombocytopenia with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Encephalopathy with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Respiratory disorder with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Strongyloidiasis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Myocarditis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Noninfectious gastroenteritis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Central nervous disorder with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Neuritis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Encephalomyelitis associated with AIDS (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Herpes zoster with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Neuralgia with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Dyspnea with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Low vision associated with AIDS (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hyperhidrosis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Malignant neoplasm with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Coccidioidomycosis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cholangitis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Infectious disease with acquired immune deficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Benign granulocytopenia in childhood |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Febrile granulocytopenia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Complement component 8 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Basophilic leukemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hemophagocytic lymphohistiocytosis due to infection (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Agranulocytosis caused by antithyroid agent (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked lymphoproliferative disease due to XIAP deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked severe congenital neutropenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked agammaglobulinemia with growth hormone deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Mendelian susceptibility to mycobacterial disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Bronchiolitis obliterans syndrome following allogeneic stem cell transplant |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Bronchiolitis obliterans syndrome due to and after lung transplantation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe combined immunodeficiency due to LAT deficiency |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare syndrome with combined immunodeficiency characterised by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due to a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Combined immunodeficiency due to transferrin receptor deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Familial hemophagocytic lymphohistiocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Macrophage activation syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Macrophage activation syndrome due to juvenile systemic onset arthritis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare, genetic primary immunodeficiency characterised by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophytosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Paediatric multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Paediatric multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Leucocyte adhesion deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Leukocyte adhesion deficiency - type 1 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Leucocyte adhesion deficiency - type 2 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| PGM3-related congenital disorder of glycosylation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Reticular dysgenesis with congenital aleucocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Reticular dysgenesis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Severe combined immunodeficiency with reticular dysgenesis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Dedicator of cytokinesis 2 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Susceptibility to localized juvenile periodontitis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Functional disorder of polymorphonuclear neutrophil (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Primary cutaneous plasmacytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Severe combined immunodeficiency due to CORO1A deficiency |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Immune effector cell-associated neurotoxicity syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autoinflammatory disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Familial Mediterranean fever |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Familial amyloid nephropathy with urticaria AND deafness |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Chronic infantile neurological, cutaneous and articular syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hereditary periodic fever (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| TNF receptor-associated periodic fever syndrome (TRAPS) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hyperimmunoglobulinemia D with periodic fever (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cryopyrin associated periodic syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Yao syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Monogenic autoinflammatory syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Infantile onset panniculitis with uveitis and systemic granulomatosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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