beta-Thalassemia

Preferred Label : beta-Thalassemia;

MeSH definition : A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.;

MeSH synonym : beta thalassemia; microcytemia, beta type; microcytemias, beta type; type microcytemia, beta; type microcytemias, beta; beta type microcytemia; beta type microcytemias; thalassemia, beta; thalassemias, beta; beta thalassemias; thalassemia, beta type; thalassemias, beta type; type thalassemia, beta; type thalassemias, beta; beta type thalassemia; beta type thalassemias;

Wikipedia automatic translation : Thalassemia;

MeSH hyponym : thalassemia major; thalassemia minor; hemoglobin F disease; thalassemia intermedia; Intermedia, Thalassemia; Intermedias, Thalassemia; Thalassemia Intermedias; Thalassemia Minor (beta-Thalassemia Minor); Minor, Thalassemia (beta-Thalassemia Minor); Minors, Thalassemia (beta-Thalassemia Minor); Thalassemia Minor (beta Thalassemia Minor); Thalassemia Minors (beta-Thalassemia Minor); Disease, Hemoglobin F; Anemia, Erythroblastic; Anemias, Erythroblastic; Erythroblastic Anemia; Thalassemia Major (beta-Thalassemia Major); Major, Thalassemia (beta-Thalassemia Major); Majors, Thalassemia (beta-Thalassemia Major); Thalassemia Major (beta Thalassemia Major); Thalassemia Majors (beta-Thalassemia Major); Mediterranean Anemia; Anemias, Mediterranean; Mediterranean Anemias; Anemia, Cooley's; Anemia, Cooley; Anemia, Cooleys; Cooley's Anemia; Anemia, Mediterranean;

MeSH annotation : delta-beta thalassemia DELTA-THALASSEMIA BETA-THALASSEMIA;

Wikipedia link : https://en.wikipedia.org/wiki/Thalassemia;

Details

Origin ID

D017086;

UMLS CUI

C0005283;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Addison's anemia [MedDRA LLT]
- Beta Thalassemia Major [NCIt concept]
- Beta thalassaemia minor [MedDRA LLT]
- Beta thalassemia [ICD-9 code]
- Beta thalassemia minor [MedDRA LLT]
- Biermer's disease [ORDO Disease]
- Delta-beta thalassaemia [ICD-11 More detail]
- Fanconi Anemia [NCIt concept]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- Hereditary Persistence of Fetal Hemoglobin [NCIt concept]
- Hereditary persistence of fetal haemoglobin [ICD-11 Subcategory]
- Hereditary persistence of fetal haemoglobin [HPFH] [ICD-10 Sub-category (who)]
- Hereditary persistence of fetal hemoglobin [PASCAL descriptor]
- Hereditary persistence of fetal hemoglobin [MedDRA LLT]
- Hereditary persistence of fetal hemoglobin thalassemia (disorder) [SNOMED CT concept]
- Hereditary persistence of foetal haemoglobin [MedDRA Preferred Term]
- Heterozygous thalassemia (disorder) [SNOMED CT concept]
- Mediterranean anaemia [MedDRA LLT]
- Mediterranean anemia [MedDRA LLT]
- Pernicious anaemia [MedDRA Preferred Term]
- Pernicious anemia (disorder) [SNOMED CT concept]
- Sickle-cell thalassemia without crisis [ICD-9 code]
- Thalassaemia intermedia [MedDRA LLT]
- Thalassaemia minor [MedDRA Preferred Term]
- Thalassaemia minor [ICD-11 More detail]
- Thalassaemia minor [MedDRA LLT]
- Thalassemia intermedia [MedDRA LLT]
- Thalassemia intermedia (disorder) [SNOMED CT concept]
- Thalassemia minor [ICD-10 Sub-category]
- Thalassemia minor [ICD-9 code]
- Thalassemia minor [MedDRA LLT]
- Vegan's anemia (disorder) [SNOMED CT concept]
- beta thalassemia [Blood Transfusion thesaurus concept]
- beta-thalassemia major [DO Concept]
- hereditary haemolytic anaemia [ICPC-2 Rubric]
- hereditary persistence of fetal hemoglobin thalassemia, nos [SNOMED Notion]
- thalassemia [MedlinePlus Topic]
- thalassemia intermedia, nos [SNOMED Notion]
- thalassemia minor [DO Concept]
- thalassemia minor, nos [SNOMED Notion]
- β-Thalassemia intermedia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Beta Thalassemia [NCIt concept]
- Beta plus thalassemia (disorder) [SNOMED CT concept]
- Beta thalassaemia [ICD-11 Subcategory]
- Beta thalassaemia [ICD-10 Sub-category (who)]
- Beta thalassaemia [MedDRA LLT]
- Beta thalassemia [ICD-10 Sub-category]
- Beta thalassemia (disorder) [SNOMED CT concept]
- Beta-thalassaemia [MedDRA LLT]
- Beta-thalassemia [OMIM Phenotype]
- Beta-thalassemia [ORDO Disease]
- Beta-thalassemia intermedia [ORDO Disease]
- Beta-thalassemia major [ORDO Disease]
- Cooley's anaemia [MedDRA LLT]
- Cooley's anemia [MedDRA LLT]
- Homozygous beta thalassemia (disorder) [SNOMED CT concept]
- Thalassaemia beta [MedDRA Preferred Term]
- Thalassaemia major [MedDRA LLT]
- Thalassemia beta [MedDRA LLT]
- Thalassemia major [MedDRA LLT]
- Thalassemia major (disorder) [SNOMED CT concept]
- Thalassemia, unspecified [ICD-9 code]
- beta thalassemia [DO Concept]
- beta thalassemia [Disease (Nov.)]
- beta thalassemia, nos [SNOMED Notion]
- beta+ thalassemia, nos [SNOMED Notion]
- homozygous beta thalassemia [SNOMED Notion]
- thalassemia major, nos [SNOMED Notion]
DO Cross reference
- beta thalassemia [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Cooley's anemia [MedDRA LLT]
- Hereditary persistence of fetal haemoglobin [HPFH] [ICD-10 Sub-category (who)]
- thalassemia major, nos [SNOMED Notion]
- thalassemia minor, nos [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Hematological disorder with renal involvement [ORDO Disease]
- Pituitary hormone deficiency secondary to storage disease [ORDO Disease]
MedlinePlus topic(s)
- thalassemia [MedlinePlus Topic]
ORDO relation(s)
- Beta-thalassemia [ORDO Disease]
Record concept(s)
- beta-Thalassemia [MeSH concept]
- hemoglobin F disease [MeSH concept]
- thalassemia intermedia [MeSH concept]
- thalassemia major [MeSH concept]
- thalassemia minor [MeSH concept]
Related MeSH Supplementary Concept(s)
- Delta-Beta thalassemia [MeSH Supplementary Concept]
- beta thalassemia, dominant inclusion body type [MeSH Supplementary Concept]
- thalassemia, beta+, silent allele [MeSH Supplementary Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta Thalassemia [NCIt concept]
- Beta thalassaemia [MedDRA LLT]
- Beta thalassaemia [ICD-10 Sub-category (who)]
- Beta thalassemia [ICD-10 Sub-category]
- Beta thalassemia [ICD-9 code]
- Beta thalassemia (disorder) [SNOMED CT concept]
- Beta-thalassaemia [MedDRA LLT]
- Beta-thalassemia [ORDO Disease]
- Beta-thalassemia [OMIM Phenotype]
- Thalassaemia beta [MedDRA Preferred Term]
- Thalassemia beta [MedDRA LLT]
- beta thalassemia [DO Concept]
- beta thalassemia, nos [SNOMED Notion]
- beta+ thalassemia, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Beta thalassaemia intermedia [ICD-11 More detail]
- Beta thalassaemia major [ICD-11 More detail]
- Beta thalassaemia minor [ICD-11 More detail]
- beta thalassemia intermedia [Disease (Nov.)]
- beta thalassemia major [Disease (Nov.)]
- thalassemia intermedia [Disease (Nov.)]
- thalassemia major [Disease (Nov.)]
- thalassemia minor [Disease (Nov.)]
Validated automatic mappings to NTBT
- thalassemia [Disease (Nov.)]

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