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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_10923
http://purl.obolibrary.org/obo/DOID_10923
|
|---|---|
| Preferred Name | sickle cell anemia |
| Definitions |
A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
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].
|
| 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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See less
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. 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]. |
|---|---|
| alternative label |
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
See more
See less
|
| preferred label |
sickle cell anemia
|
| label |
Sickle Cell Anemia
sickle cell anemia
|
| comment |
OMIM mapping confirmed by DO. [LS].
|
| prefLabel |
sickle cell anemia
|
| 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
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|
| notation |
122
DOID:10923
|
| in_subset | |
| id |
DOID:10923
|
| note |
A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
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].
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| prefixIRI |
DOID:10923
|
| subClassOf | |
| has_alternative_id |
DOID:12924
DOID:13024
|
| type | |
| 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
See more
See less
|
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