Sickle Beta Thalassemia

Preferred Label : Sickle Beta Thalassemia;

NCIt synonyms : Sickle Cell-Beta Thalassemia;

NCIt related terms : S-Beta Thalassemia; Sickle Cell-Beta-Thalassemia; Hb S-Beta Thalassemia;

NCIt definition : A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.;

Alternative definition : NICHD: A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal beta-globin produced by the beta-thalassemia gene.;

Details

Origin ID

C95539;

UMLS CUI

C0221019;

Currated CISMeF NLP mapping
- Hemoglobin S/Beta Thalassemia [LOINC component]
- Sickle cell beta plus thalassemia (disorder) [SNOMED CT concept]
- 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]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Sickle cell thalassaemia [MedDRA LLT]
- Sickle cell thalassemia [MedDRA LLT]
- Thalassaemia sickle cell [MedDRA Preferred Term]
- Thalassemia sickle cell [MedDRA LLT]
- sickle cell thalassaemia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hemoglobin S/Beta Thalassemia [LOINC component]
- Sickle cell-beta-thalassemia (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology 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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