Hemoglobin C Disease

Preferred Label : Hemoglobin C Disease;

NCIt definition : An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice.;

Alternative definition : NICHD: An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.;

Détails

Origin ID

C34675;

UMLS CUI

C0019021;

Currated CISMeF NLP mapping
- Haemoglobin C disease [ICD-11 Subcategory]
- Haemoglobin C disease [MedDRA Preferred Term]
- Hemoglobin C disease [ORDO Disease]
- Hemoglobin C disease [MedDRA LLT]
- Hemoglobin C disease (disorder) [SNOMED CT concept]
- hemoglobin C disease [Disease (Nov.)]
- hemoglobin C disease [DO Concept]
- hemoglobin C disease [MeSH concept]
- hemoglobin c disease [MeSH Descriptor]
- hemoglobin c disease [SNOMED Notion]
DO Cross reference
- hemoglobin C 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 C disease [MedDRA Preferred Term]
- Haemoglobin C disease [ICD-11 Subcategory]
- Hemoglobin C disease [ORDO Disease]
- Hemoglobin C disease [MedDRA LLT]
- Hemoglobin C disease (disorder) [SNOMED CT concept]
- hemoglobin C disease [DO Concept]
- hemoglobin C disease [Disease (Nov.)]
- hemoglobin C disease [MeSH concept]
- hemoglobin c disease [MeSH Descriptor]
- hemoglobin c disease [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E7K [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]
pathogenesis_of_disease_involves_gene
- HBB Gene [NCIt concept]
- HBB wt Allele [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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