Alpha Thalassemia

Preferred Label : Alpha Thalassemia;

NCIt definition : A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule.;

Alternative definition : NICHD: A genetic hematologic disorder characterized by loss of function mutations in one or more of the alpha globin genes.;

Details

Origin ID

C34368;

UMLS CUI

C0002312;

Automatic exact mappings (from CISMeF team)
- Alpha thalassemia [ICD-9 code]
Currated CISMeF NLP mapping
- Alpha plus thalassemia (disorder) [SNOMED CT concept]
- Alpha thalassaemia [ICD-10 Sub-category (who)]
- Alpha thalassaemia [MedDRA LLT]
- Alpha thalassemia [ICD-10 Sub-category]
- Alpha thalassemia (disorder) [SNOMED CT concept]
- Alpha-thalassaemia [MedDRA LLT]
- Alpha-thalassemia [OMIM Phenotype]
- Alpha-thalassemia [ORDO Disease]
- Thalassaemia alpha [MedDRA Preferred Term]
- Thalassemia alpha [MedDRA LLT]
- alpha thalassemia [Disease (Nov.)]
- alpha thalassemia [DO Concept]
- alpha thalassemia, nos [SNOMED Notion]
- alpha+ thalassemia, nos [SNOMED Notion]
- alpha-Thalassemia [MeSH Descriptor]
- alpha-Thalassemia [MeSH concept]
DO Cross reference
- alpha 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)
- Alpha thalassaemia [MedDRA LLT]
- Alpha thalassaemia [ICD-10 Sub-category (who)]
- Alpha thalassemia [ICD-10 Sub-category]
- Alpha thalassemia [ICD-9 code]
- Alpha thalassemia (disorder) [SNOMED CT concept]
- Alpha-thalassaemia [MedDRA LLT]
- Alpha-thalassemia [ORDO Disease]
- Alpha-thalassemia [OMIM Phenotype]
- Thalassaemia alpha [MedDRA Preferred Term]
- Thalassemia alpha [MedDRA LLT]
- alpha thalassemia [DO Concept]
- alpha thalassemia, nos [SNOMED Notion]
- alpha-Thalassemia [MeSH concept]
- alpha-Thalassemia [MeSH Descriptor]
- hemoglobin h disease [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Hemoglobin Subunit Alpha [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_gene
- HBA1 Gene [NCIt concept]
- HBA1 wt Allele [NCIt concept]
- HBA2 Gene [NCIt concept]
- HBA2 wt Allele [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]

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