Beta Thalassemia

Preferred Label : Beta Thalassemia;

NCIt related terms : Thalassemia Major;

NCIt 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.;

Alternative definition : NICHD: 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.;

Details

Origin ID

C34375;

UMLS CUI

C0005283;

Automatic exact mappings (from CISMeF team)
- Addison's anemia [MedDRA LLT]
- Beta thalassemia [ICD-9 code]
- Biermer's disease [ORDO Disease]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- Pernicious anaemia [MedDRA Preferred Term]
- Pernicious anemia (disorder) [SNOMED CT concept]
- Vegan's anemia (disorder) [SNOMED CT concept]
- anemia, pernicious [MeSH Descriptor]
- beta thalassemia [Blood Transfusion thesaurus concept]
- fanconi anemia [MeSH Descriptor]
- thalassemia [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Beta plus thalassemia (disorder) [SNOMED CT concept]
- Beta thalassaemia [ICD-11 Subcategory]
- Beta thalassaemia [ICD-10 Sub-category (who)]
- Beta thalassaemia [MedDRA LLT]
- Beta thalassemia [ICD-10 Sub-category]
- Beta thalassemia (disorder) [SNOMED CT concept]
- Beta-thalassaemia [MedDRA LLT]
- Beta-thalassemia [ORDO Disease]
- Beta-thalassemia [OMIM Phenotype]
- Beta-thalassemia major [ORDO Disease]
- Cooley's anaemia [MedDRA LLT]
- Cooley's anemia [MedDRA LLT]
- Homozygous beta thalassemia (disorder) [SNOMED CT concept]
- Thalassaemia beta [MedDRA Preferred Term]
- Thalassaemia major [MedDRA LLT]
- Thalassemia beta [MedDRA LLT]
- Thalassemia major [MedDRA LLT]
- Thalassemia major (disorder) [SNOMED CT concept]
- Thalassemia, unspecified [ICD-9 code]
- beta thalassemia [DO Concept]
- beta thalassemia [Disease (Nov.)]
- beta thalassemia, nos [SNOMED Notion]
- beta+ thalassemia, nos [SNOMED Notion]
- beta-Thalassemia [MeSH Descriptor]
- beta-Thalassemia [MeSH concept]
- thalassemia major [MeSH concept]
- thalassemia major, nos [SNOMED Notion]
DO Cross reference
- beta thalassemia [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 [MedDRA LLT]
- Beta thalassemia [ICD-10 Sub-category]
- Beta thalassemia [ICD-9 code]
- Beta thalassemia (disorder) [SNOMED CT concept]
- Beta-thalassaemia [MedDRA LLT]
- Beta-thalassemia [ORDO Disease]
- Beta-thalassemia [OMIM Phenotype]
- Thalassaemia beta [MedDRA Preferred Term]
- Thalassemia beta [MedDRA LLT]
- beta thalassemia [DO Concept]
- beta thalassemia, nos [SNOMED Notion]
- beta+ thalassemia, nos [SNOMED Notion]
- beta-Thalassemia [MeSH Descriptor]
- beta-Thalassemia [MeSH concept]
Validated automatic mappings to BTNT
- beta thalassemia major [Disease (Nov.)]
- thalassemia major [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Hemoglobin Subunit Beta [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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) :

You can consult :

recommendations
documents concerning education
documents for patients