Hemoglobin E Disease

Preferred Label : Hemoglobin E Disease;

NCIt definition : A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule.;

Alternative definition : NICHD: An autosomal recessive disorder resulting from the production of hemoglobin E, secondary to an amino acid substitution of lysine for glutamic acid in the twenty-sixth position of the beta chain (E26K), and characterized by mild hemolytic anemia and possible splenomegaly.;

Details

Origin ID

C35287;

UMLS CUI

C0238159;

Currated CISMeF NLP mapping
- Haemoglobin E disease [ICD-11 Subcategory]
- Haemoglobin E disease [MedDRA Preferred Term]
- Hemoglobin E disease [ORDO Disease]
- Hemoglobin E disease [MedDRA LLT]
- Hemoglobin E disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin SS disease (disorder) [SNOMED CT concept]
- hemoglobin E disease [DO Concept]
- hemoglobin E disease [Disease (Nov.)]
- hemoglobin e disease [SNOMED Notion]
DO Cross reference
- hemoglobin E disease [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)
- Haemoglobin E disease [ICD-11 Subcategory]
- Haemoglobin E disease [MedDRA Preferred Term]
- Hemoglobin E disease [ORDO Disease]
- Hemoglobin E disease [MedDRA LLT]
- Hemoglobin E disease (disorder) [SNOMED CT concept]
- Homozygous haemoglobin E [MedDRA LLT]
- Homozygous hemoglobin E [MedDRA LLT]
- hemoglobin E disease [DO Concept]
- hemoglobin E disease [Disease (Nov.)]
- hemoglobin e disease [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E27K [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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