Sickle Cell-Hemoglobin C Disease

Preferred Label : Sickle Cell-Hemoglobin C Disease;

NCIt synonyms : Hemoglobin SC Disease; HbSC;

NCIt definition : A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease.;

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

Details

Origin ID

C34676;

UMLS CUI

C0019034;

Automatic exact mappings (from CISMeF team)
- Hb-SC [MedDRA LLT]
- sickle cell anemia [DO Concept]
Currated CISMeF NLP mapping
- Haemoglobin SC disease [MedDRA LLT]
- Hemoglobin SC disease [LOINC component]
- Hemoglobin SC disease [MedDRA LLT]
- Sickle cell-hemoglobin C disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin C disease syndrome [ORDO Disease]
- hemoglobin SC disease [Disease (Nov.)]
- hemoglobin SC disease [MeSH Descriptor]
- hemoglobin SC disease [MeSH concept]
- sickle cell-hemoglobin c disease [SNOMED Notion]
DO Cross reference
- sickle cell anemia [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 SC disease [MedDRA LLT]
- Hb-SC [MedDRA LLT]
- Hemoglobin SC disease [MedDRA LLT]
- Hemoglobin SC disease [LOINC component]
- Sickle cell Hb-C disease [MedDRA LLT]
- Sickle cell-hemoglobin C disease (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin C disease syndrome [ORDO Disease]
- Sickle-cell/Hb-C disease [ICD-10 Sub-category]
- Sickle-cell/Hb-C disease without crisis [ICD-9 code]
- hemoglobin SC disease [Disease (Nov.)]
- hemoglobin SC disease [MeSH Descriptor]
- hemoglobin SC disease [MeSH concept]
- sickle cell-hemoglobin c disease [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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) :

You can consult :

recommendations
documents concerning education
documents for patients