loading...| Preferred Name |
Sickle Cell Disease |
|
| Synonyms |
Sickle-cell Disorders Sickle Cell Anemia Sickling Disorder due to Hemoglobin S sickle cell anemia sickle cell disease Sickle Cell Disease |
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| Definitions |
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34383 |
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| ALT_DEFINITION |
An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion. 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. |
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| code |
C34383 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89506 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520 |
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| Contributing_Source |
Cellosaurus CPTAC CTRP NICHD |
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| DEFINITION |
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. |
|
| Display_Name |
Sickle Cell Disease |
|
| FULL_SYN |
Sickle-cell Disorders Sickle Cell Anemia Sickling Disorder due to Hemoglobin S sickle cell anemia sickle cell disease Sickle Cell Disease |
|
| label |
Sickle Cell Disease |
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| Legacy Concept Name |
Sickle_Cell_Disease |
|
| Maps_To |
Sickle-cell anaemia without crisis |
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| Preferred_Name |
Sickle Cell Disease |
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| prefixIRI |
Thesaurus:C34383 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0002895 |
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| subClassOf |