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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
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
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). Has definitional manifestation False Immune system finding Inferred relationship Some
This syndrome is characterized by severe growth retardation associated with immunodeficiency. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported. Has definitional manifestation False Immune system finding Inferred relationship Some
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. Has definitional manifestation False Immune system finding Inferred relationship Some
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Has definitional manifestation False Immune system finding Inferred relationship Some
A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Has definitional manifestation False Immune system finding Inferred relationship Some
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. Has definitional manifestation False Immune system finding Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Has definitional manifestation False Immune system finding Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Has definitional manifestation False Immune system finding Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. Has definitional manifestation False Immune system finding Inferred relationship Some
Primary hemophagocytic lymphohistiocytosis Has definitional manifestation False Immune system finding Inferred relationship Some
Acquired neutrophilia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Adult-onset immunodeficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Constitutional neutrophilia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Acquired disorder of neutrophil function (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Disorder of neutrophil adhesion (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Disorder of neutrophil chemotaxis (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Constitutional eosinopenia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Acquired eosinopenia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Constitutional eosinophilia Has definitional manifestation False Immune system finding Inferred relationship Some
Acquired eosinophilia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Acquired lymphocytopenia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Acquired lymphocytosis (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Pancytopenia caused by medication (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Febrile granulocytopenia (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Natural-killer cell deficiency (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Gardner-Diamond syndrome (disorder) Has definitional manifestation False Immune system finding Inferred relationship Some
Disorder of immune function (disorder) Is a False Immune system finding Inferred relationship Some
Normal immune system function (finding) Is a True Immune system finding Inferred relationship Some

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