Hemoglobin S - CISMeF

Preferred Label : Hemoglobin S;

NCIt synonyms : Hgb S;

NCIt related terms : Hb S;

NCIt definition : A tetrameric complex of 2 molecules of hemoglobin subunit alpha (encoded by either the HBA1 or HBA2 gene) and 2 molecules of a hemoglobin subunit beta variant where the glutamic acid residue at position 7 has been replaced by valine.;

NCIt note : This hemoglobin subunit beta variant is often reported in the literature as Glu6Val (E6V) but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis.;

Details

Origin ID

C172950;

UMLS CUI

C0019043;

Currated CISMeF NLP mapping
- Hemoglobin S [LOINC component]
- Hemoglobin S (substance) [SNOMED CT concept]
- hemoglobin s [SNOMED Notion]
- hemoglobin, sickle [MeSH Descriptor]
- hemoglobin, sickle [MeSH concept]
See also inter- (CISMeF)
- Hemoglobin S [MedDRA LLT]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Hemoglobin S [LOINC component]
- Hemoglobin S (substance) [SNOMED CT concept]
- hemoglobin s [SNOMED Notion]
- hemoglobin, sickle [MeSH Descriptor]
- hemoglobin, sickle [MeSH concept]
gene_encodes_gene_product
- Globin Gene [NCIt concept]
gene_product_expressed_in_tissue
- Erythrocyte [NCIt concept]
gene_product_has_abnormality
- HBB NP_000509.1:p.E7V [NCIt concept]
gene_product_plays_role_in_biological_process
- Transport Process [NCIt concept]
has_gene_product_element
- Hemoglobin Subunit Alpha [NCIt concept]
related_to_genetic_biomarker
- HBA1 Gene [NCIt concept]
- HBA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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