Sickle Cell-Hemoglobin E Disease

Preferred Label : Sickle Cell-Hemoglobin E Disease;

NCIt synonyms : Hemoglobin SE Disease;

NCIt definition : A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.;

Details

Origin ID

C155307;

UMLS CUI

C1112747;

Currated CISMeF NLP mapping
- Compound HbS or HbE heterozygotes [ICD-11 More detail]
- Haemoglobin SE disease [MedDRA LLT]
- Hemoglobin SE disease [MedDRA LLT]
- Sickle cell-hemoglobin E disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin E disease syndrome [ORDO Disease]
- hemoglobin SE disease [Disease (Nov.)]
- sickle cell-hemoglobin e disease [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Compound HbS or HbE heterozygotes [ICD-11 More detail]
- Haemoglobin SE disease [MedDRA LLT]
- Hemoglobin SE disease [MedDRA LLT]
- Sickle cell-hemoglobin E disease (disorder) [SNOMED CT concept]
- hemoglobin SE disease [Disease (Nov.)]
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]

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