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106182000: Immune system finding (finding)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170610016 Immune system finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
578676010 Immune system finding (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
71681000077117 constatation à propos du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

179 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Immune system finding Is a Finding of blood, lymphatics and immune system true Inferred relationship Some
Immune system finding Is a constatation selon la localisation false Inferred relationship Some
Immune system finding Finding site Structure of immune system (body structure) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Alloimmune neonatal neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Eosinophilic meningoencephalitis Has definitional manifestation False Immune system finding Inferred relationship Some
Shwachman syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Reticular dysgenesis with congenital aleucocytosis Has definitional manifestation False Immune system finding Inferred relationship Some
Infectious lymphocytosis Has definitional manifestation False Immune system finding Inferred relationship Some
Cyclical neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
HIV infection with infectious mononucleosis-like syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Leukocyte adhesion deficiency - type 1 Has definitional manifestation False Immune system finding Inferred relationship Some
Asthmatic pulmonary eosinophilia Has definitional manifestation False Immune system finding Inferred relationship Some
trouble éosinophile Has definitional manifestation False Immune system finding Inferred relationship Some
Lymphocyte disorder Has definitional manifestation False Immune system finding Inferred relationship Some
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
B lymphocyte disorder Has definitional manifestation False Immune system finding Inferred relationship Some
Neutropenia with dysgranulopoiesis Has definitional manifestation False Immune system finding Inferred relationship Some
Cytomegaloviral mononucleosis Has definitional manifestation False Immune system finding Inferred relationship Some
Heterophil-negative mononucleosis syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Mast cell malignancy of intra-abdominal lymph nodes Has definitional manifestation False Immune system finding Inferred relationship Some
Eosinophilia myalgia syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Cryptogenic pulmonary eosinophilia Has definitional manifestation False Immune system finding Inferred relationship Some
Hereditary white blood cell disorder (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
X-linked hypogammaglobulinemia Has definitional manifestation False Immune system finding Inferred relationship Some
Drug-induced neutrophilia Has definitional manifestation False Immune system finding Inferred relationship Some
Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Diffuse infiltrative lymphocytosis syndrome (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Mast cell disorder (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Chronic neutrophilia Has definitional manifestation False Immune system finding Inferred relationship Some
Congenital neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Neutrophil secondary granule deficiency Has definitional manifestation False Immune system finding Inferred relationship Some
Immune neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Chronic granulomatous disease, type IVA Has definitional manifestation False Immune system finding Inferred relationship Some
Chronic hypoplastic neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Bullous cutaneous mastocytosis Has definitional manifestation False Immune system finding Inferred relationship Some
Mast cell malignancy of intrathoracic lymph nodes Has definitional manifestation False Immune system finding Inferred relationship Some
Qualitative abnormality of granulocyte Has definitional manifestation False Immune system finding Inferred relationship Some
Malignant mast cell tumors Has definitional manifestation False Immune system finding Inferred relationship Some
Neutrophil cytomatrix disorder Has definitional manifestation False Immune system finding Inferred relationship Some
Leukozytenadhäsionsdefekt Has definitional manifestation False Immune system finding Inferred relationship Some
CD4 T lymphocyte deficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Leucocyte adhesion deficiency - type 2 Has definitional manifestation False Immune system finding Inferred relationship Some
Autoimmune lymphoproliferative syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Mannose-binding lectin deficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Cryoglobulinaemia due to chronic hepatitis C Has definitional manifestation False Immune system finding Inferred relationship Some
Idiopathic eosinophilic pneumonitis (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Phagocytic immunodeficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Periodontitis co-occurrent with Chédiak-Higashi syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Periodontitis co-occurrent with infantile genetic agranulocytosis Has definitional manifestation False Immune system finding Inferred relationship Some
Periodontitis co-occurrent with acquired neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Cytokine-associated toxicity (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Periodontitis co-occurrent with leukocyte adhesion deficiency Has definitional manifestation False Immune system finding Inferred relationship Some
Periodontitis co-occurrent with familial neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Periodontitis co-occurrent with cyclical neutropenia Has definitional manifestation False Immune system finding Inferred relationship Some
Eosinophil peroxidase deficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Activated PI3K-delta syndrome Has definitional manifestation False Immune system finding Inferred relationship Some
Immunoglobulin G deficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Agranulocytosis co-occurrent with human immunodeficiency virus infection Has definitional manifestation False Immune system finding Inferred relationship Some
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Has definitional manifestation False Immune system finding Inferred relationship Some
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. Has definitional manifestation False Immune system finding Inferred relationship Some
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. Has definitional manifestation False Immune system finding Inferred relationship Some
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. Has definitional manifestation False Immune system finding Inferred relationship Some
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Has definitional manifestation False Immune system finding Inferred relationship Some
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterised by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Has definitional manifestation False Immune system finding Inferred relationship Some
Monoclonal B-cell lymphocytosis (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. Has definitional manifestation False Immune system finding Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. Has definitional manifestation False Immune system finding Inferred relationship Some
X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. Has definitional manifestation False Immune system finding Inferred relationship Some
X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males. Has definitional manifestation False Immune system finding Inferred relationship Some
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Has definitional manifestation False Immune system finding Inferred relationship Some
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Has definitional manifestation False Immune system finding Inferred relationship Some
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. Has definitional manifestation False Immune system finding Inferred relationship Some
Immunodeficiency caused by long term therapeutic use of drug (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Anti-human leukocyte antigen hyperimmunization (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Has definitional manifestation False Immune system finding Inferred relationship Some
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Has definitional manifestation False Immune system finding Inferred relationship Some
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibly to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Has definitional manifestation False Immune system finding Inferred relationship Some
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Has definitional manifestation False Immune system finding Inferred relationship Some
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. Has definitional manifestation False Immune system finding Inferred relationship Some
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency. Has definitional manifestation False Immune system finding Inferred relationship Some
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. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Has definitional manifestation False Immune system finding Inferred relationship Some
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. Has definitional manifestation False Immune system finding Inferred relationship Some
FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections. Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG). Has definitional manifestation False Immune system finding Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. Has definitional manifestation False Immune system finding Inferred relationship Some
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. Has definitional manifestation False Immune system finding Inferred relationship Some
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. Has definitional manifestation False Immune system finding Inferred relationship Some
Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. Has definitional manifestation False Immune system finding Inferred relationship Some
Immuno-osseous dysplasia Has definitional manifestation False Immune system finding Inferred relationship Some
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. Has definitional manifestation False Immune system finding Inferred relationship Some
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Has definitional manifestation False Immune system finding Inferred relationship Some

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