Sickle Cell-Thalassemia

Preferred Label : Sickle Cell-Thalassemia;

NCIt related terms : Sickle Cell Thalassemia;

NCIt definition : Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene.;

NCI Metathesaurus CUI : CL448229;

Details

Origin ID

C61237;

UMLS CUI

C2242796;

Currated CISMeF NLP mapping
- Sickle cell beta plus thalassemia (disorder) [SNOMED CT concept]
- Sickle cell thalassaemia [MedDRA LLT]
- Sickle cell thalassemia [MedDRA LLT]
- Sickle cell-beta-thalassemia (disorder) [SNOMED CT concept]
- Sickle cell-beta-thalassemia disease syndrome [ORDO Disease]
- Sickle cell-thalassemia disease (disorder) [SNOMED CT concept]
- Sickle-cell beta thalassaemia [MedDRA LLT]
- Sickle-cell beta thalassemia [MedDRA LLT]
- Thalassaemia sickle cell [MedDRA Preferred Term]
- Thalassemia sickle cell [MedDRA LLT]
- sickle cell thalassaemia [Disease (Nov.)]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sickle cell thalassaemia [MedDRA LLT]
- Sickle cell thalassemia [MedDRA LLT]
- Sickle cell-thalassemia disease (disorder) [SNOMED CT concept]
- Thalassaemia sickle cell [MedDRA Preferred Term]
- Thalassemia sickle cell [MedDRA LLT]
- hemoglobin s-f disease [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E7V [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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