loading...| Preferred Name |
Sickle Cell Disease |
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| Synonyms |
Sickle cell anaemia Cell Disorder, Sickle Cell Disorders, Sickle hemoglobin S-S disease Sickle cell disorders Sickle-cell disease, unspecified Hb SS disease Sickling disorder due to hemoglobin S (disorder) Sickle Cell Anemias Anemias, Sickle Cell Sickle-cell disease NOS Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder) Sickle Cell Disorder Sickle-cell anemia NOS Sickle-cell disease Sickle cell syndrome Sickling disorder due to hemoglobin S Hemoglobin SS Disease Anaemia sickle cell HEMOGLOBIN S DIS Sickle-cell disorder NOS HbS disease Herrick's anemia Cell Disease, Sickle Haemoglobin S-S disease Sickle-cell anaemia Hereditary hemoglobinopathy disorder homozygous for hemoglobin S Sickle Cell Diseases Anemia sickle cell Drepanocythemia sickle cell anemia Haemoglobin S disease Sickling disorder due to haemoglobin S Sickle-cell anemia, unspecified Sickle cell disease NOS Cell Diseases, Sickle Disease, Hemoglobin S ANEMIA, SICKLE CELL SICKLE CELL HEMOLYTIC ANEMIA Drepanocythaemia Sickle-cell anaemia, unspecified Sickle-cell disorders Hb S disease HERRICK SYNDROME sickle cell disease Anemia, Sickle Cell [Disease/Finding] Hemoglobin S Diseases Hemoglobin S Disease Sickle-cell anemia sicklemia |
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| Definitions |
[NCIt Definition]: A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. [NCI-GLOSS Definition]: An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell anemia is caused by a mutation (change) in one of the genes for hemoglobin (the substance inside red blood cells that binds to oxygen and carries it from the lungs to the tissues). It is most common in people of West and Central African descent. [CSP Definition]: Disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs; the clinical expression of homozygosity for hemoglobin S. [MSH Definition]: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. [NICHD Definition]: An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion. [GARD Definition]: Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern. Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions. - this information is from GARD/ORDR/NCATS. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0002895 |
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| Definition |
[NCIt Definition]: A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. [NCI-GLOSS Definition]: An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell anemia is caused by a mutation (change) in one of the genes for hemoglobin (the substance inside red blood cells that binds to oxygen and carries it from the lungs to the tissues). It is most common in people of West and Central African descent. [CSP Definition]: Disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs; the clinical expression of homozygosity for hemoglobin S. [MSH Definition]: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. [NICHD Definition]: An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion. [GARD Definition]: Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern. Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions. - this information is from GARD/ORDR/NCATS. |
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| External Source | ||
| Label |
Sickle Cell Disease |
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| notation |
C0002895 |
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| PAT ID |
C0002895 |
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| prefLabel |
Sickle Cell Disease |
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| Sub Class Of | ||
| Synonyms |
Sickle cell anaemia Cell Disorder, Sickle Cell Disorders, Sickle hemoglobin S-S disease Sickle cell disorders Sickle-cell disease, unspecified Hb SS disease Sickling disorder due to hemoglobin S (disorder) Sickle Cell Anemias Anemias, Sickle Cell Sickle-cell disease NOS Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder) Sickle Cell Disorder Sickle-cell anemia NOS Sickle-cell disease Sickle cell syndrome Sickling disorder due to hemoglobin S Hemoglobin SS Disease Anaemia sickle cell HEMOGLOBIN S DIS Sickle-cell disorder NOS HbS disease Herrick's anemia Cell Disease, Sickle Haemoglobin S-S disease Sickle-cell anaemia Hereditary hemoglobinopathy disorder homozygous for hemoglobin S Sickle Cell Diseases Anemia sickle cell Drepanocythemia sickle cell anemia Haemoglobin S disease Sickling disorder due to haemoglobin S Sickle-cell anemia, unspecified Sickle cell disease NOS Cell Diseases, Sickle Disease, Hemoglobin S ANEMIA, SICKLE CELL SICKLE CELL HEMOLYTIC ANEMIA Drepanocythaemia Sickle-cell anaemia, unspecified Sickle-cell disorders Hb S disease HERRICK SYNDROME sickle cell disease Anemia, Sickle Cell [Disease/Finding] Hemoglobin S Diseases Hemoglobin S Disease Sickle-cell anemia sicklemia |