Physician Data Query

Last uploaded: January 31, 2024
Preferred Name

thalassemia major

Synonyms

Cooley's anemia

Definitions

An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C34375" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C34375" NCI Thesaurus)

ID

http://purl.bioontology.org/ontology/PDQ/CDR0000740457

altLabel

Cooley's anemia

beta thalassemia

Cooley anemia

cui

C0005283

DATE FIRST PUBLISHED

2012-09-20

Date last modified

2012-09-20

definition

An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C34375" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C34375" NCI Thesaurus)

NCI ID

C34375

notation

CDR0000740457

ORIG STY

Disease/diagnosis

prefLabel

thalassemia major

tui

T047

subClassOf

http://purl.bioontology.org/ontology/PDQ/CDR0000664286

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10004505 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10043391 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10004514 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10054660 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10054660 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/D56.1 ICD10 CUI
http://purl.bioontology.org/ontology/MESH/D017086 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003523 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/613985 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10054660 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD9CM/282.44 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/X20Cn RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65959000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/DC-13500 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LA18564-7 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D017086 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10004514 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10004505 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10004505 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10004514 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/141900 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/65959000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10043391 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10043391 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/D56.1 ICD10CM CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Thalassemia_Major CSEO LOOM
http://id.nlm.nih.gov/mesh/D017086 MDM LOOM
http://www.gamuts.net/entity#thalassemia_major GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10054661 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/75451007 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1121 OCHV LOOM