Hemoglobin Barts

Preferred Label : Hemoglobin Barts;

NCIt synonyms : Hemoglobin Bart's Hydrops;

NCIt related terms : Bart's Hemoglobinopathy;

NCIt definition : A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter.;

Details

Origin ID

C103920;

UMLS CUI

C3539063;

Automatic exact mappings (from CISMeF team)
- Hemoglobin Bart (substance) [SNOMED CT concept]
- Hemoglobin Barts [HPO term]
- Hemoglobin Barts [LOINC component]
- alpha-Thalassemia [MeSH Descriptor]
- hemoglobin bart [SNOMED Notion]
- hemoglobin bart's [MeSH concept]
- hemoglobin bart's [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hb Bart's hydrops fetalis [ORDO Disease]
- Hemoglobin Bart's hydrops syndrome (disorder) [SNOMED CT concept]
- alpha thalassemia major [Disease (Nov.)]
- hemoglobin bart's hydrops syndrome [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)
- Hemoglobin Barts [HPO term]
- Hemoglobin Barts [LOINC component]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Hemoglobin Alpha Homozygous Null Genotype [NCIt concept]
- Rare Lesion [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
- HBA1 Gene [NCIt concept]
- HBA2 Gene [NCIt concept]

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