Sickle cell disease

Preferred Label : Sickle cell disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sickle cell anemia;

Description : Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hemoglobin beta gene (HBB, 141900.0243);

Prefixed ID : #603903;

Details

Origin ID

603903;

UMLS CUI

C0002895;

Automatic exact mappings (from CISMeF team)
- Sickle cell trait (disorder) [SNOMED CT concept]
- Sickle cell-hemoglobin C disease syndrome [ORDO Disease]
- Sickle cell-hemoglobin E disease syndrome [ORDO Disease]
- sickle cell anemia [EMDN type]
Currated CISMeF NLP mapping
- Anaemia sickle cell [MedDRA LLT]
- Anemia sickle cell [MedDRA LLT]
- Drepanocytosis [MedDRA LLT]
- Sickle Cell Disease [NCIt concept]
- 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 without crisis [ICD-11 Subcategory]
- Sickle cell-hemoglobin SS disease (disorder) [SNOMED CT concept]
- 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]
Genes related to phenotype
- Hemoglobin--beta locus [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Cholelithiasis [HPO term]
- Hematuria [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hypertension [HPO term]
- Hypoxemia [HPO term]
- Increased red cell sickling tendency [HPO term]
- Jaundice [HPO term]
- Leukocytosis [HPO term]
- Priapism [HPO term]
- Recurrent bacterial infections [HPO term]
- Renal insufficiency [HPO term]
- Retinopathy [HPO term]
- Splenomegaly [HPO term]
- Stroke [HPO term]
ORDO concept(s)
- Sickle cell anemia [ORDO Disease]
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 Disease [NCIt concept]
- Sickle cell anaemia [MedDRA Preferred Term]
- Sickle cell anemia [LOINC component]
- Sickle cell anemia [ORDO Disease]
- Sickle cell anemia [MedDRA LLT]
- Sickle cell disease [MedDRA LLT]
- 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]
Validated automatic mappings to BTNT
- Sickling disorder due to hemoglobin S (disorder) [SNOMED CT concept]

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