Sickle Cell-Hemoglobin D Disease

Preferred Label : Sickle Cell-Hemoglobin D Disease;

NCIt synonyms : Hemoglobin SD Disease;

NCIt definition : A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D 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

C155310;

UMLS CUI

C0272084;

Currated CISMeF NLP mapping
- Haemoglobin SD disease [MedDRA LLT]
- Hemoglobin SD disease [MedDRA LLT]
- Sickle cell-hemoglobin D disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin D disease syndrome [ORDO Disease]
- sickle cell-hemoglobin d 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)
- Haemoglobin SD disease [MedDRA LLT]
- Hemoglobin SD disease [MedDRA LLT]
- Sickle cell-hemoglobin D disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin D disease syndrome [ORDO Disease]
- sickle cell-hemoglobin d disease [SNOMED Notion]
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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