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91689009: Body system structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
151907017 Organ system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
509587013 Body system structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
835054011 Body system structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12681000077117 structure d'un système corporel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

32681 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Body system structure Is a Anatomical structure true Inferred relationship Some
Body system structure partie de Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Part 1 Schilling test (procedure) Procedure site False Body system structure Inferred relationship Some 1
Radionuclide white blood cell imaging study (procedure) Procedure site False Body system structure Inferred relationship Some 2
Hemoglobin SS disease with vasoocclusive crisis (disorder) Finding site False Body system structure Inferred relationship Some
Radionuclide measurement of red cell mass and plasma volume (procedure) Procedure site False Body system structure Inferred relationship Some 1
Chagas' mega disease Finding site False Body system structure Inferred relationship Some 1
Chagas' mega disease Finding site False Body system structure Inferred relationship Some 1
Hemoglobin O-Arab trait (disorder) Finding site False Body system structure Inferred relationship Some
Manual procedure for malpresentation or position Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Internal conversion of face to vertex Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Hemoglobin H constant spring thalassemia (disorder) Finding site False Body system structure Inferred relationship Some
Manual rotation of fetal head Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 2
Reposition of a prolapsed arm Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Internal cephalic version and extraction Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Fetal head - manual flexion Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Internal conversion of face to vertex Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Reposition of a prolapsed arm Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Internal cephalic version and extraction Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Fetal head - manual flexion Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Manual rotation of fetal head Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 2
Manual procedure for malpresentation or position Procedure site - Direct (attribute) False Body system structure Inferred relationship Some 1
Dysarthria as late effects of cerebrovascular disease Finding site False Body system structure Inferred relationship Some 3
Isolated collagen aggregation defect Finding site True Body system structure Inferred relationship Some 1
Glycoprotein Ia defect Finding site True Body system structure Inferred relationship Some 1
Platelet membrane defect Finding site True Body system structure Inferred relationship Some 2
Thromboxane synthetase deficiency Finding site False Body system structure Inferred relationship Some 1
Platelet secretory disorder Finding site True Body system structure Inferred relationship Some 1
Thromboxane generation defect Finding site True Body system structure Inferred relationship Some 2
Gray platelet syndrome Finding site True Body system structure Inferred relationship Some 2
Glanzmann's thrombasthenia Finding site False Body system structure Inferred relationship Some 1
Bernard Soulier syndrome Finding site False Body system structure Inferred relationship Some 2
May Hegglin syndrome Finding site False Body system structure Inferred relationship Some
Mixed alpha granule and dense body deficiency Finding site False Body system structure Inferred relationship Some 2
Familial alpha>2< adrenergic receptor defect in platelets Finding site False Body system structure Inferred relationship Some 1
Dense body defect Finding site True Body system structure Inferred relationship Some 2
Glycoprotein Ib defect Finding site False Body system structure Inferred relationship Some 1
Giant platelet syndrome Finding site True Body system structure Inferred relationship Some 2
syndrome des plaquettes Québec Finding site False Body system structure Inferred relationship Some 2
Cyclooxygenase deficiency Finding site True Body system structure Inferred relationship Some 1
Platelet dense granule deficiency Finding site True Body system structure Inferred relationship Some 1
Hereditary platelet function disorder Finding site True Body system structure Inferred relationship Some 2
Platelet factor V deficiency (factor V Quebec) Finding site True Body system structure Inferred relationship Some 2
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) Finding site True Body system structure Inferred relationship Some 3
Scott syndrome Finding site True Body system structure Inferred relationship Some 1
Platelet procoagulant activity deficiency Finding site True Body system structure Inferred relationship Some 1
Platelet type pseudo-von Willebrand disease Finding site False Body system structure Inferred relationship Some 2
Hereditary thrombocytopenic disorder (disorder) Finding site True Body system structure Inferred relationship Some 2
Platelet storage pool defect Finding site False Body system structure Inferred relationship Some 2
Inherited platelet disorder Finding site True Body system structure Inferred relationship Some 1
Sickle cell trait in mother complicating childbirth (disorder) Finding site False Body system structure Inferred relationship Some
Sickle cell anaemia in mother complicating childbirth Finding site False Body system structure Inferred relationship Some
Thalassemia in mother complicating childbirth Finding site False Body system structure Inferred relationship Some
Thalassemia in mother complicating pregnancy Finding site False Body system structure Inferred relationship Some
Sickle cell trait in mother complicating pregnancy Finding site False Body system structure Inferred relationship Some
Structure of skin and/or mucous membrane (body structure) Is a True Body system structure Inferred relationship Some
Apprehension test of shoulder Procedure site - Direct (attribute) True Body system structure Inferred relationship Some 2
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. Finding site False Body system structure Inferred relationship Some 3
Structure of subdivision of organ system (body structure) Is a True Body system structure 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. Finding site True Body system structure Inferred relationship Some 1
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. Finding site True Body system structure Inferred relationship Some 2
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. Finding site True Body system structure Inferred relationship Some 1
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. Finding site True Body system structure Inferred relationship Some 2
White platelet syndrome (WPS) is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. Finding site True Body system structure Inferred relationship Some 2
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. Finding site True Body system structure Inferred relationship Some 1
MYH9 macrothrombocytopenia syndrome Finding site False Body system structure Inferred relationship Some 3
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. Finding site False Body system structure Inferred relationship Some 2
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. Finding site True Body system structure Inferred relationship Some 3
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. Finding site True Body system structure Inferred relationship Some 3
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). Finding site True Body system structure Inferred relationship Some 2
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. Finding site False Body system structure Inferred relationship Some 1
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. Finding site True Body system structure Inferred relationship Some 2
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. Finding site False Body system structure Inferred relationship Some 2
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. Finding site True Body system structure Inferred relationship Some 2
Perianal Crohn's disease Finding site False Body system structure Inferred relationship Some 4
Crohn's disease that affects parts of the body outside of the digestive system is known as extraintestinal Crohn's and is commonly related to the joints, skin, and eyes and organs like the kidney and liver. Finding site False Body system structure Inferred relationship Some 1
A screening test that determines the side of iliosacral somatic dysfunction (motion of ilium on the sacrum). Procedure site - Direct (attribute) True Body system structure Inferred relationship Some 1
A screening test that determines the side of sacroiliac somatic dysfunction (motion of the sacrum on the ilium). Procedure site - Direct (attribute) True Body system structure Inferred relationship Some 1
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Finding site False Body system structure Inferred relationship Some 1
immunodéficience combinée sévère due à un déficit de recrutement par la caspase 11 Finding site False Body system structure Inferred relationship Some 1
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. Finding site True Body system structure Inferred relationship Some 1
A rare, genetic coagulation disorder characterised by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia. Finding site True Body system structure Inferred relationship Some 1
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. Finding site True Body system structure Inferred relationship Some 3
Lateral epicondylitis test (procedure) Procedure site - Direct (attribute) True Body system structure Inferred relationship Some 4
Hereditary neutrophilia Finding site True Body system structure Inferred relationship Some 2
Perianal Crohn's disease Finding site False Body system structure Inferred relationship Some 2
Bernard Soulier syndrome Finding site True Body system structure Inferred relationship Some 2
Glanzmann's thrombasthenia Finding site True Body system structure Inferred relationship Some 1
Platelet storage pool defect Finding site True Body system structure Inferred relationship Some 2
Mixed alpha granule and dense body deficiency Finding site True Body system structure Inferred relationship Some 2
Familial alpha>2< adrenergic receptor defect in platelets Finding site True Body system structure Inferred relationship Some 1
Glycoprotein Ib defect Finding site True Body system structure Inferred relationship Some 1
Thromboxane synthetase deficiency Finding site True Body system structure Inferred relationship Some 1
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. Finding site True Body system structure Inferred relationship Some 1
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Finding site True Body system structure Inferred relationship Some 1
Adenosine deaminase 2 deficiency Finding site True Body system structure Inferred relationship Some 1
X-linked thrombocytopenia with normal platelets (disorder) Finding site True Body system structure Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. Finding site True Body system structure Inferred relationship Some 6
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. Finding site True Body system structure Inferred relationship Some 3
A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. Finding site False Body system structure Inferred relationship Some 1
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. Finding site True Body system structure Inferred relationship Some 1
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia. Finding site True Body system structure Inferred relationship Some 2
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. Finding site True Body system structure Inferred relationship Some 1

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