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41898006: Erythrocyte (cell)

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
69909016 Erythrocyte en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
69911013 Red blood cell en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
69912018 RBC en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
69913011 Red blood corpuscule en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493141011 RBC - Red blood cell en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
778737018 Erythrocyte (cell) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

37 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Erythrocyte (cell) Is a Blood cell true Inferred relationship Some
Erythrocyte (cell) partie de Blood false Inferred relationship Some
Erythrocyte (cell) partie de Entire body as a whole false Inferred relationship Some
Erythrocyte (cell) partie de Entire hematopoietic system false Additional relationship Some
Erythrocyte (cell) Is a Erythroid cell (cell) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
HPFH deletion type Finding site True Erythrocyte (cell) Inferred relationship Some 3
Alpha plus thalassaemia deletion type Finding site True Erythrocyte (cell) Inferred relationship Some 3
Beta zero thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
HPFH linked to beta-globulin gene cluster Finding site True Erythrocyte (cell) Inferred relationship Some 3
^A^gamma delta beta^0^ thalassemia (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Beta zero thalassemia non deletion type (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Homozygous hemoglobinopathy Finding site True Erythrocyte (cell) Inferred relationship Some 1
Heterozygous hemoglobinopathy Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hereditary hemoglobinopathy due to globin chain mutation Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-hemoglobin SS disease Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell-beta-thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 4
Sickle cell beta plus thalassaemia Finding site True Erythrocyte (cell) Inferred relationship Some 4
Sickle cell-beta^0^-thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 4
Sickle cell-delta beta^0^-thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 4
Sickle cell anemia with coexistent alpha-thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 4
Sickle cell trait with coexistent alpha-thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell-hemoglobin Lepore disease Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-Hemoglobin O Arab disease Finding site True Erythrocyte (cell) Inferred relationship Some 1
Alpha trait thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Beta thalassaemia intermedia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Hereditary persistence of fetal hemoglobin (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Homozygous alpha thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Alpha thalassemia-2 trait Finding site True Erythrocyte (cell) Inferred relationship Some 3
Haemoglobin Constant Spring trait Finding site True Erythrocyte (cell) Inferred relationship Some 3
Hemoglobin Lepore trait Finding site True Erythrocyte (cell) Inferred relationship Some 3
Delta-beta-Lepore thalassaemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Alpha-beta thalassemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Gamma thalassaemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell anemia with high hemoglobin F Finding site True Erythrocyte (cell) Inferred relationship Some 4
Hemoglobin E/beta thalassemia disease Finding site True Erythrocyte (cell) Inferred relationship Some 1
Congenital methemoglobinemia with abnormal methemoglobins Finding site True Erythrocyte (cell) Inferred relationship Some 1
Beta thalassaemia trait Finding site True Erythrocyte (cell) Inferred relationship Some 3
Alpha thalassemia-mental retardation syndrome Finding site False Erythrocyte (cell) Inferred relationship Some 3
Acquired haemoglobin H disease Finding site True Erythrocyte (cell) Inferred relationship Some 3
Hemoglobin SS disease without crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell-hemoglobin D disease without crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hemoglobin S sickling disorder without crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hereditary hemoglobin S (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-hemoglobin E disease with crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-hemoglobin E disease without crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-thalassemia disease with crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 4
Sickle cell-thalassemia disease without crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 4
Hemoglobin S sickling disorder with crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickling disorder due to hemoglobin S (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hemoglobin SS disease with crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell-hemoglobin C disease with crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-hemoglobin C disease without crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Sickle cell-hemoglobin D disease with crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hereditary hemoglobinopathy (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hemoglobin SS disease with vasoocclusive crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Acute sickle cell splenic sequestration crisis (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Hemoglobin O-Arab trait (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hemoglobin H constant spring thalassemia (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Finding site True Erythrocyte (cell) Inferred relationship Some 3
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Finding site True Erythrocyte (cell) Inferred relationship Some 3
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell trait in mother complicating pregnancy Finding site True Erythrocyte (cell) Inferred relationship Some 1
Thalassemia in mother complicating pregnancy Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell anaemia in mother complicating childbirth Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sickle cell trait in mother complicating childbirth (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Thalassemia in mother complicating childbirth Finding site True Erythrocyte (cell) Inferred relationship Some 3
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. Finding site False Erythrocyte (cell) Inferred relationship Some 3
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Finding site True Erythrocyte (cell) Inferred relationship Some 7
Neonatal hemolysis co-occurrent and due to systemic bacterial infection (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Neonatal polycythaemia due to placental insufficiency Finding site True Erythrocyte (cell) Inferred relationship Some 4
Neonatal polycythaemia due to intra-uterine growth retardation Finding site True Erythrocyte (cell) Inferred relationship Some 4
Oroya fever Finding site False Erythrocyte (cell) Inferred relationship Some 5
X chromosome-linked pyridoxine responsive sideroblastic anemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
X chromosome-linked pyridoxine refractory sideroblastic anemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. Finding site True Erythrocyte (cell) Inferred relationship Some 3
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. Finding site True Erythrocyte (cell) Inferred relationship Some 1
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. Finding site True Erythrocyte (cell) Inferred relationship Some 5
Anemia co-occurrent and due to chronic kidney disease stage 4 (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Anemia co-occurrent and due to chronic kidney disease stage 5 (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Finding site True Erythrocyte (cell) Inferred relationship Some 3
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site. Finding site True Erythrocyte (cell) Inferred relationship Some 1
Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function. Finding site True Erythrocyte (cell) Inferred relationship Some 1
In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. Finding site True Erythrocyte (cell) Inferred relationship Some 1
Acquired Heinz body anemia Finding site True Erythrocyte (cell) Inferred relationship Some 3
Sulphaemoglobinaemia Finding site True Erythrocyte (cell) Inferred relationship Some 1
Stokvis' disease Finding site True Erythrocyte (cell) Inferred relationship Some 1
Acquired hemoglobinopathy Finding site True Erythrocyte (cell) Inferred relationship Some 1
Acquired methemoglobinemia Finding site True Erythrocyte (cell) Inferred relationship Some 1
Vaso-occlusive pain co-occurrent and due to sickle cell disease (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. Finding site True Erythrocyte (cell) Inferred relationship Some 1
Acquired iron deficiency anemia due to decreased absorption (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Megaloblastic anemia due to folate deficiency in pregnancy and lactation (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Megaloblastic anemia due to folate deficiency due to increased requirement (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Megaloblastic anemia due to folate deficiency in prematurity (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 3
Acquired iron deficiency anemia due to increased iron requirement (disorder) Finding site True Erythrocyte (cell) Inferred relationship Some 1
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. Finding site True Erythrocyte (cell) Inferred relationship Some 2
Intraerythrocytic parasitosis by Entopolypoides Finding site True Erythrocyte (cell) Inferred relationship Some 1
Intraerythrocytic parasitosis by Nuttallia Finding site True Erythrocyte (cell) Inferred relationship Some 1
Haemolytic anaemia caused by Clostridium welchii Finding site True Erythrocyte (cell) Inferred relationship Some 1
Idiopathic chronic cold agglutinin disease Finding site True Erythrocyte (cell) Inferred relationship Some 3
Hemolytic disease of fetus OR newborn due to RhD isoimmunization (disorder) Finding site False Erythrocyte (cell) Inferred relationship Some 3
Primary cold-type hemolytic anemia Finding site False Erythrocyte (cell) Inferred relationship Some 3
Autoimmune hemolytic anemia, categorized by antibody class AND/OR complement Finding site False Erythrocyte (cell) Inferred relationship Some 3
Warm autoimmune hemolytic anemia Finding site False Erythrocyte (cell) Inferred relationship Some 3
Autoimmune hemolytic anemia caused by immunoglobulin G plus complement (disorder) Finding site False Erythrocyte (cell) Inferred relationship Some 3
Hemolytic anemia due to malaria Finding site False Erythrocyte (cell) Inferred relationship Some 4

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