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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34375
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34375
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|---|---|
| Preferred Name | Beta Thalassemia |
| Definitions |
An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
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| Synonyms |
Thalassemia Major
Beta Thalassemia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label | Beta Thalassemia
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|---|---|
| Legacy Concept Name | Thalassemia_Major
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| Preferred_Name | Beta Thalassemia
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| Display_Name |
Thalassemia Major
Beta Thalassemia
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| Semantic_Type | Disease or Syndrome
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| prefixIRI | Thesaurus:C34375
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| DEFINITION | An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
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| UMLS_CUI | C0002875
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| code | C34375
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| subClassOf | |
| type | |
| FULL_SYN |
Thalassemia Major
Beta Thalassemia
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| ALT_DEFINITION | An autosomal recessive disorder that affects the production of beta polypeptide chains that are necessary for hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
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| Contributing_Source |
Cellosaurus
CTRP
NICHD
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| Concept_In_Subset |
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