Sickle Cell Disease

Preferred Label : Sickle Cell Disease;

NCIt synonyms : Sickle Cell Anemia;

NCIt related terms : Sickle-cell Disorders; Sickling Disorder due to Hemoglobin S;

NCIt definition : A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.;

Alternative definition : NCI-GLOSS: An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell anemia is caused by a mutation (change) in one of the genes for hemoglobin (the substance inside red blood cells that binds to oxygen and carries it from the lungs to the tissues). It is most common in people of West and Central African descent.; NICHD: An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion.;

Codes from synonyms : CDR0000546598; CDR0000559458;

Details

Origin ID

C34383;

UMLS CUI

C0002895;

Automatic exact mappings (from CISMeF team)
- Sickle cell disease [MedDRA Preferred Term]
- Sickle cell trait (disorder) [SNOMED CT concept]
- Sickle-cell disorders [ICD-10 category]
- hemoglobin SS [MeSH concept]
- hemoglobin, sickle [MeSH Descriptor]
- sickle cell anemia [medical devices type]
Currated CISMeF NLP mapping
- Anaemia sickle cell [MedDRA LLT]
- Anemia sickle cell [MedDRA LLT]
- Drepanocytosis [MedDRA LLT]
- Sickle cell anaemia [MedDRA Preferred Term]
- Sickle cell anemia [PASCAL descriptor]
- Sickle cell anemia [LOINC component]
- Sickle cell anemia [ORDO Disease]
- Sickle cell anemia [MedDRA LLT]
- Sickle cell disease [OMIM Phenotype]
- Sickle cell disease [MedDRA LLT]
- Sickle cell disease NOS [MedDRA LLT]
- Sickle cell disease without crisis [ICD-11 Subcategory]
- Sickle-cell anaemia [MedDRA LLT]
- Sickle-cell anemia [MedDRA LLT]
- anemia, sickle cell [MeSH Descriptor]
- anemia, sickle cell [MeSH concept]
- hemoglobin s disease [SNOMED Notion]
- sickle cell anemia [DO Concept]
- sickle cell anemia [Disease (Nov.)]
- sickle cell anemia [Radlex concept]
- sickle cell disease [Blood Transfusion thesaurus concept]
- sickle cell disease [MedlinePlus Topic]
DO Cross reference
- sickle cell anemia [DO Concept]
False automatic mappings
- Sickle cell-hemoglobin SS disease (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anaemia sickle cell [MedDRA LLT]
- Anemia sickle cell [MedDRA LLT]
- Sickle cell anaemia [MedDRA Preferred Term]
- Sickle cell anemia [ORDO Disease]
- Sickle cell anemia [MedDRA LLT]
- Sickle cell anemia [LOINC component]
- Sickle cell disease [MedDRA LLT]
- Sickle cell disease [OMIM Phenotype]
- Sickle cell disease [MedDRA Preferred Term]
- Sickle cell disease NOS [MedDRA LLT]
- Sickle cell disorders [MedDRA LLT]
- Sickle cell-hemoglobin SS disease (disorder) [SNOMED CT concept]
- Sickle-cell anaemia [MedDRA LLT]
- Sickle-cell anaemia, unspecified [MedDRA LLT]
- Sickle-cell anemia [MedDRA LLT]
- Sickle-cell anemia, unspecified [MedDRA LLT]
- Sickle-cell disease [ICD-9 code]
- Sickle-cell disease, unspecified [ICD-9 code]
- Sickle-cell disorders [ICD-10 category]
- Sickling disorder due to hemoglobin S (disorder) [SNOMED CT concept]
- anemia, sickle cell [MeSH Descriptor]
- anemia, sickle cell [MeSH concept]
- hemoglobin s disease [SNOMED Notion]
- sickle cell anemia [Radlex concept]
- sickle cell anemia [DO Concept]
- sickle cell anemia [Disease (Nov.)]
- sickle cell disease [MedlinePlus Topic]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_gene
- MIR320A Gene [NCIt concept]
- MIR320A wt Allele [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]
pathogenesis_of_disease_involves_gene
- HBB Gene [NCIt concept]
- HBB wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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