FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.5  |  FHIR Version n/a  User: [n/a]

769247005: Abnormal immune process (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3690560011 Abnormal immune process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3690561010 Abnormal immune process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal immune process (qualifier value) Is a Pathological process true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypersensitivity disorder mediated by immune complex (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Lapiere type of psoriasis Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 3
Generalised pustular psoriasis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Generalized pustular psoriasis of pregnancy Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Circinate and annular pustular psoriasis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Pustuløs psoriasis hos børn Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Juvenile pustular psoriasis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Immune-mediated neuropathy Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Infantile pustular psoriasis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Erythrodermic psoriasis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Psoriasis med artropati Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Delayed hypersensitivity disorder (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Pustular bacterid Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 6
Juvenile psoriatic arthritis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 5
Juvenile psoriatic arthritis with psoriasis (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 6
Iritis with psoriatic arthritis (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 6
Antibody-mediated activation and inactivation Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
antistofmedieret cytolyse Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Chronic migratory panniculitis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Erythema nodosum due to streptococcal infection (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 5
Chronic erythema nodosum (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Erythema nodosum due to Yersinia enterocolitica (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 5
Erythema nodosum caused by drug Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 5
Acute erythema nodosum (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Erythema nodosum due to yersiniosis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
Erythema nodosum Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Erythema nodosum due to bacterial infection (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
Erythema nodosum due to tuberculosis (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
Sarcoidosis-induced erythema nodosum Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
Lofgrens syndrome (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 5
Erythema nodosum due to coccidioidomycosis (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 3
Erythema nodosum migrans Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
Lipogranulomatosis subcutanea of Rothmann and Makai Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
Tinea kerion of beard Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Kerion caused by Trichophyton Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Tinea kerion Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Kerion caused by Microsporum Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare secondary haemophagocytic lymphohistiocytosis characterised by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are leukaemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare primary immunodeficiency disorder characterised by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinaemia or incomplete antibody deficiency syndrome) manifesting with recurrent infections. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Eosinophilic peritonitis (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare genetic non-severe combined immunodeficiency disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Aseptic peritoneal eosinophilia due to and following dialysis (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells. Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhoea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Iatrogenic immunodeficiency-associated lymphoproliferative disorder (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
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 Some 2
Transient neonatal neutropenia due to congenital viral infection Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Transient neonatal neutropenia due to neonatal bacterial sepsis (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Acquired neutropenia in newborn (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare acquired immunodeficiency disorder characterised by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalised), fever, weight loss and/or reactive skin lesions. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Eosinophilic colitis Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Eosinophilic ulcerative colitis Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Eosinophilic ulcerative colitis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Solitary cutaneous mastocytoma (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Telangiectasia macularis eruptiva perstans Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Diffuse erythrodermic mastocytosis (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Cutaneous mastocytosis (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 1
Cutaneous mastocytosis, infantile form (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Urticaria pigmentosa Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 1
Cutaneous mastocytosis, adult form (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Bullous cutaneous mastocytosis Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Familial mastocytosis (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Non-chronic lymphocytic leukemia monoclonal B-cell lymphocytosis (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinaemia, abnormal specific antibody production and impaired T-cell function are observed. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 3
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare primary immunodeficiency due to a defect in innate immunity disorder with characteristics of selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 3
Hypogammaglobulinaemia due to multiple myeloma Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2. Pathological process (attribute) True 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 6
A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Pustular psoriasis of sole of foot Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
A rare genetic non-severe combined immunodeficiency disorder with characteristics of variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare acquired immunodeficiency disease with characteristics of adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed. Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 3
A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 6
Pustular psoriasis of palm of hand (disorder) Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 4
A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 5
Pancytopenia caused by immunosuppressant Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 6
An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 3
Monoclonal B-cell lymphocytosis chronic lymphocytic leukaemia-type Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
eksacerbation af multipel sklerose Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
eksacerbation af multipel sklerose Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 4
Acute relapsing multiple sclerosis Pathological process (attribute) False Abnormal immune process (qualifier value) Inferred relationship Some 2
Acute relapsing multiple sclerosis Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Motor neuropathy with multiple conduction block Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Multiple sclerosis of the brainstem Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Multiple sclerosis of the brainstem Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Mast cell activation syndrome (disorder) Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Multiple sclerosis of the spinal cord Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Multiple sclerosis of the spinal cord Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 2
Multiple sclerosis Pathological process (attribute) True Abnormal immune process (qualifier value) Inferred relationship Some 1
Multiple sclerosis 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 2

Start Previous Page 8 of 14 Next End


Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start