FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

414030009: Disorder of immune structure (disorder)

Status: current, 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
2530846019 Disorder of immune structure (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534310012 Disorder of immune structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6073981000241110 affection d'une structure immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6073991000241112 affection d'une structure du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1345 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of immune structure (disorder) Is a Disorder of body system true Inferred relationship Some
Disorder of immune structure (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Nodular high grade B-cell lymphoma Is a False Disorder of immune structure (disorder) Inferred relationship Some
Malignant histiocytosis (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Chronic disease of immune structure (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Triglyceride storage disease with ichthyosis Is a False Disorder of immune structure (disorder) Inferred relationship Some
Monocytosis Is a False Disorder of immune structure (disorder) Inferred relationship Some
Lymphocyte disorder Is a False Disorder of immune structure (disorder) Inferred relationship Some
Genetic anomaly of leukocyte Is a False Disorder of immune structure (disorder) Inferred relationship Some
syndrome d'hyperimmunoglobulinémie E Is a False Disorder of immune structure (disorder) Inferred relationship Some
Eosinophilic syndrome Is a False Disorder of immune structure (disorder) Inferred relationship Some
déficit immunitaire combiné sévère dû à l'absence d'antigènes leucocytaires humains de classe II Is a False Disorder of immune structure (disorder) Inferred relationship Some
Reactive immunoproliferative disease Is a True Disorder of immune structure (disorder) Inferred relationship Some
Burkitt's tumor of lymph nodes of multiple sites Is a False Disorder of immune structure (disorder) Inferred relationship Some
Burkitt's tumor of extranodal AND/OR solid organ site Is a False Disorder of immune structure (disorder) Inferred relationship Some
Immune system complication of procedure Is a True Disorder of immune structure (disorder) Inferred relationship Some
Infectious disorder of immune system Is a True Disorder of immune structure (disorder) Inferred relationship Some
Inflammatory disorder of immune system Is a True Disorder of immune structure (disorder) Inferred relationship Some
Traumatic injury of immune system Is a True Disorder of immune structure (disorder) Inferred relationship Some
Polyclonal hypergammaglobulinaemia Is a True Disorder of immune structure (disorder) Inferred relationship Some
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Severe combined immunodeficiency with low T- and B-cell numbers Is a True Disorder of immune structure (disorder) Inferred relationship Some
Severe combined immunodeficiency with low or normal B-cell numbers (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
déficit en complexe majeur d'histocompatibilité classe I Is a False Disorder of immune structure (disorder) Inferred relationship Some
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. Is a False Disorder of immune structure (disorder) Inferred relationship Some
Immunodeficiency following hereditary defective response to Epstein-Barr virus Is a True Disorder of immune structure (disorder) Inferred relationship Some
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions (disorder) Is a False Disorder of immune structure (disorder) Inferred relationship Some
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders Is a False Disorder of immune structure (disorder) Inferred relationship Some
Common variable immunodeficiency with autoantibodies to B- or T-cells Is a False Disorder of immune structure (disorder) Inferred relationship Some
Lymphocyte function antigen-1 defect (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Benign granulocytopenia in childhood Is a False Disorder of immune structure (disorder) Inferred relationship Some
Chronic benign neutropenia of childhood Is a False Disorder of immune structure (disorder) Inferred relationship Some
Chronic idiopathic immunoneutropenia in adult (disorder) Is a False Disorder of immune structure (disorder) Inferred relationship Some
Chronic hypoplastic neutropenia Is a False Disorder of immune structure (disorder) Inferred relationship Some
Myeloperoxidase deficiency syndrome Is a False Disorder of immune structure (disorder) Inferred relationship Some
Adult G6PD deficiency of leucocytes syndrome Is a False Disorder of immune structure (disorder) Inferred relationship Some
Burkitt's lymphoma of unspecified site Is a False Disorder of immune structure (disorder) Inferred relationship Some
Burkitt's lymphoma NOS Is a False Disorder of immune structure (disorder) Inferred relationship Some
[X]Unspecified B-cell non-Hodgkin's lymphoma Is a False Disorder of immune structure (disorder) Inferred relationship Some
Diffuse non-Hodgkin's lymphoma, small cleaved cell (clinical) Is a False Disorder of immune structure (disorder) Inferred relationship Some
Diffuse non-Hodgkin's lymphoma, small cell (clinical) Is a False Disorder of immune structure (disorder) Inferred relationship Some
Immunoproliferative small intestinal disease (clinical) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Prolymphocytic leukemia (clinical) Is a False Disorder of immune structure (disorder) Inferred relationship Some
X-linked agammaglobulinemia with growth hormone deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Autosomal agammaglobulinaemia with absent B-cells Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin heavy chain deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin light chain deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin subclass deficiency Is a False Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin-associated molecule deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Specific antibody deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Primary immunoglobulin catabolism abnormality Is a True Disorder of immune structure (disorder) Inferred relationship Some
Severe combined immunodeficiency with maternofetal engraftment Is a True Disorder of immune structure (disorder) Inferred relationship Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis Is a True Disorder of immune structure (disorder) Inferred relationship Some
Benign combined immunodeficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Phagocytic cell defect Is a False Disorder of immune structure (disorder) Inferred relationship Some
Tuftsin deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Classical complement pathway abnormality Is a True Disorder of immune structure (disorder) Inferred relationship Some
Alternative pathway deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Terminal component deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Complement regulatory factor defect Is a True Disorder of immune structure (disorder) Inferred relationship Some
Complement receptor deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunodeficiency with major anomalies Is a True Disorder of immune structure (disorder) Inferred relationship Some
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Chromosome 18 syndromes and antibody deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Chromosome 22 abnormalities with hypogammaglobulinaemia Is a True Disorder of immune structure (disorder) Inferred relationship Some
Deletion of X-chromosome and hypogammaglobulinemia Is a True Disorder of immune structure (disorder) Inferred relationship Some
Microcephaly, normal intelligence and immunodeficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Triple X syndrome, epilepsy, and hypogammaglobulinemia Is a True Disorder of immune structure (disorder) Inferred relationship Some
Age-related immunodeficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Drug-induced immunodeficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Reticular dysgenesis Is a True Disorder of immune structure (disorder) Inferred relationship Some
Disorder of lymphoid system (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Myeloperoxidase deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin G2 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Combined immunoglobulin G2 and G4 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin G3 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin G4 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin G1 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin A1 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunoglobulin A2 deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Defective phagocytic cell opsonisation Is a True Disorder of immune structure (disorder) Inferred relationship Some
Defective phagocytic cell chemotaxis Is a True Disorder of immune structure (disorder) Inferred relationship Some
Defective phagocytic cell adhesion Is a True Disorder of immune structure (disorder) Inferred relationship Some
Neutrophil secondary granule deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Is a True Disorder of immune structure (disorder) Inferred relationship Some
Gluthathione peroxidase deficiency Is a True Disorder of immune structure (disorder) Inferred relationship Some
Combined phagocytic defect Is a True Disorder of immune structure (disorder) Inferred relationship Some
B lymphocyte disorder Is a False Disorder of immune structure (disorder) Inferred relationship Some
Congenital dysphagocytosis Is a False Disorder of immune structure (disorder) Inferred relationship Some
Lipochrome histiocytosis - familial Is a True Disorder of immune structure (disorder) Inferred relationship Some
Functional disorders of polymorphonuclear neutrophils Is a False Disorder of immune structure (disorder) Inferred relationship Some
CD4 T lymphocyte deficiency (disorder) Is a True Disorder of immune structure (disorder) Inferred relationship Some
Panleukopenia (disorder) Is a False Disorder of immune structure (disorder) Inferred relationship Some
autre trouble du système immunitaire associé au SIDA Is a False Disorder of immune structure (disorder) Inferred relationship Some
Lymphocyte disorder Is a False Disorder of immune structure (disorder) Inferred relationship Some
Hereditary angioedema without abnormal C1 inhibitor levels or function. One type has been found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. Mechanisms include mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. Is a False Disorder of immune structure (disorder) Inferred relationship Some
A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. Is a True Disorder of immune structure (disorder) Inferred relationship Some
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Is a False Disorder of immune structure (disorder) Inferred relationship Some
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. Is a False Disorder of immune structure (disorder) Inferred relationship Some
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Is a True Disorder of immune structure (disorder) Inferred relationship Some
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Is a True Disorder of immune structure (disorder) Inferred relationship Some
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear. Is a True Disorder of immune structure (disorder) Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. Is a True Disorder of immune structure (disorder) Inferred relationship Some

Page 1 of 2 End

This concept is not in any reference sets

Back to Start