Preferred Name | sickle cell anemia | |
Synonyms |
Hb-S/Hb-C disease Hemoglobin S disease without crisis Hb-SS disease without crisis hemoglobin SC disease Hb SC disease haemoglobin SC disease sickle cell anaemia drepanocytosis HbSS disease homozygous sickle cell disease Sickle-cell/Hb-C disease without crisis |
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Definitions |
A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. OMIM mapping confirmed by DO. [LS]. |
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ID |
http://purl.obolibrary.org/obo/DOID_10923 |
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comment |
OMIM mapping confirmed by DO. [LS]. |
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database_cross_reference |
ICD9CM:282.6 ICD9CM:282.63 MESH:D006450 UMLS_CUI:C0019034 SNOMEDCT_US_2023_03_01:154798006 SNOMEDCT_US_2023_03_01:35434009 MESH:D000755 UMLS_CUI:C0002895 ICD10CM:D57.2 ICD10CM:D57.1 GARD:8614 NCI:C34383 NCI:C34676 ORDO:232 |
|
definition |
A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. |
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has exact synonym |
Hb-S/Hb-C disease Hemoglobin S disease without crisis Hb-SS disease without crisis hemoglobin SC disease Hb SC disease haemoglobin SC disease sickle cell anaemia drepanocytosis HbSS disease homozygous sickle cell disease Sickle-cell/Hb-C disease without crisis |
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has material basis in | ||
has_alternative_id |
DOID:12924 DOID:13024 |
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has_obo_namespace |
disease_ontology |
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id |
DOID:10923 |
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in_subset | ||
label |
sickle cell anemia |
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notation |
DOID:10923 |
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prefLabel |
sickle cell anemia |
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subClassOf |
http://purl.obolibrary.org/obo/DOID_0050737 |