Alpha Thalassemia Trait

Preferred Label : Alpha Thalassemia Trait;

NCIt definition : A condition in which a person has reduced protein production from two of the four alpha-globin alleles.;

Alternative definition : NICHD: A condition in which a person has reduced protein production from two of the four alpha-globin genes. Newborn screening may be positive for Barts hemoglobin.;

Details

Origin ID

C95535;

UMLS CUI

C0472762;

Automatic exact mappings (from CISMeF team)
- Alpha thalassemia trait [MedDRA LLT]
- Thalassemia minor [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Alpha trait thalassemia (disorder) [SNOMED CT concept]
Disease may have findings
- Hemoglobin Alpha cis-Deletion Genotype [NCIt concept]
- Hemoglobin Alpha trans-Deletion Genotype [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha thalassaemia trait [MedDRA LLT]
- Alpha thalassemia trait [MedDRA LLT]
- Alpha trait thalassemia (disorder) [SNOMED CT concept]
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- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
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- Hematopoietic and Lymphoid Tissue [NCIt concept]
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- Hematopoietic and Lymphatic System [NCIt concept]

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