Sickle Cell Trait

Preferred Label : Sickle Cell Trait;

NCIt definition : An individual who is heterozygous for the mutation that causes sickle cell anemia.;

Alternative definition : NICHD: A condition in which the individual is heterozygous for the beta globin gene, displaying one normal and one abnormal allele (hemoglobin S mutation). The individual almost never displays symptoms of sickle cell anemia, but may manifest symptoms if the body experiences significant physical stress, including severe illness or prolonged hypoxemia. The trait has been found to be protective against contracting malaria.;

Détails

Origin ID

C39800;

UMLS CUI

C0037054;

Currated CISMeF NLP mapping
- Sickle cell trait [ICD-11 Subcategory]
- Sickle cell trait [MedDRA Preferred Term]
- Sickle cell trait (disorder) [SNOMED CT concept]
- Sickle-cell trait [ICD-10 Sub-category]
- Sickle-cell trait [ICD-10 Sub-category (who)]
- Sickle-cell trait [MedDRA LLT]
- sickle cell trait [MeSH Descriptor]
- sickle cell trait [MeSH concept]
- sickle cell trait [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hb-S trait [MedDRA LLT]
- Hemoglobin S [LOINC component]
- Heterozygous haemoglobin S [MedDRA LLT]
- Heterozygous hemoglobin S [MedDRA LLT]
- Sickle cell trait [MedDRA Preferred Term]
- Sickle cell trait [ICD-11 Subcategory]
- Sickle cell trait (disorder) [SNOMED CT concept]
- Sickle-cell trait [ICD-9 code]
- Sickle-cell trait [ICD-10 Sub-category]
- Sickle-cell trait [ICD-10 Sub-category (who)]
- Sickle-cell trait [MedDRA LLT]
- sickle cell trait [MeSH concept]
- sickle cell trait [MeSH Descriptor]
- sickle cell trait [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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]
may_be_associated_disease_of_disease
- Advanced Kidney Medullary Carcinoma [NCIt concept]
- Childhood SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- Kidney Medullary Carcinoma [NCIt concept]
- Locally Advanced Kidney Medullary Carcinoma [NCIt concept]
- Metastatic Kidney Medullary Carcinoma [NCIt concept]
- Recurrent Kidney Medullary Carcinoma [NCIt concept]
- Refractory Kidney Medullary Carcinoma [NCIt concept]
- SMARCB1-Deficient Kidney Medullary Carcinoma [NCIt concept]
- Unresectable Kidney Medullary Carcinoma [NCIt concept]

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

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