Beta Thalassemia Major

Preferred Label : Beta Thalassemia Major;

NCIt synonyms : Cooley Anemia; Cooley's Anemia;

NCIt definition : The most severe form of beta thalassemia that is characterized by the lack of functional beta-globin chain production resulting in the absence of hemoglobin A.;

NCI Metathesaurus CUI : CL512924;

Details

Origin ID

C129699;

UMLS CUI

C0002875;

Automatic exact mappings (from CISMeF team)
- Beta thalassemia [ICD-10 Sub-category]
- Beta-thalassemia major [ORDO Disease]
- Cooley's anemia [MedDRA LLT]
- Homozygous beta thalassemia (disorder) [SNOMED CT concept]
- beta thalassemia [Blood Transfusion thesaurus concept]
- beta-Thalassemia [MeSH Descriptor]
- beta-thalassemia major [DO Concept]
- thalassemia [MedlinePlus Topic]
DO Cross reference
- beta-thalassemia major [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta thalassaemia major [MedDRA LLT]
- Beta thalassemia major [MedDRA LLT]
- Beta-thalassemia major [ORDO Disease]
- Cooley's anaemia [MedDRA LLT]
- Cooley's anemia [MedDRA LLT]
- Homozygous beta thalassemia (disorder) [SNOMED CT concept]
- Mediterranean anaemia [MedDRA LLT]
- Mediterranean anemia [MedDRA LLT]
- Thalassaemia major [MedDRA LLT]
- Thalassemia major [MedDRA LLT]
- Thalassemia major (disorder) [SNOMED CT concept]
- beta thalassemia major [Disease (Nov.)]
- homozygous beta thalassemia [SNOMED Notion]
- thalassemia major [MeSH concept]
- thalassemia major [Disease (Nov.)]
- thalassemia major, nos [SNOMED Notion]
disease_has_finding
- Hemoglobin Beta Homozygous Null Genotype [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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