Sickle Cell-SS Disease

Preferred Label : Sickle Cell-SS Disease;

NCIt synonyms : Hemoglobin SS; Hb SS;

NCIt related terms : Sickle Cell (SS only); Hemoglobin SS Disease;

Alternative definition : NICHD: A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles.;

NCI Metathesaurus CUI : CL521310;

Details

Origin ID

C131682;

UMLS CUI

C4321477;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Sickle cell anemia [LOINC component]
- Sickle cell-hemoglobin SS disease (disorder) [SNOMED CT concept]
- anemia, sickle cell [MeSH Descriptor]
- hemoglobin SS [MeSH concept]
- hemoglobin, sickle [MeSH Descriptor]
- sickle cell disease [MedlinePlus Topic]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E7V [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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