Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). [ Orphanet:848 ]
Term information
- MESH:D017086 (Orphanet:848/e)
- NCIT:C34375 (MONDO:equivalentTo)
- DOID:12241 (MONDO:equivalentTo)
- Orphanet:848 (MONDO:equivalentTo)
- NORD:1765 (MONDO:NORD)
- GARD:871 (Orphanet:848)
- SCTID:65959000 (MONDO:equivalentTo)
- ICD9:282.49 (MONDO:relatedTo)
- MedDRA:10043391 (Orphanet:848/e)
- ICD9:282.44 (DOID:12241)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/5657
https://github.com/monarch-initiative/mondo/issues/6651
http://purl.obolibrary.org/obo/DOID_12241
http://identifiers.org/snomedct/65959000
http://purl.obolibrary.org/obo/NCIT_C34375
http://www.orpha.net/ORDO/Orphanet_848
http://identifiers.org/mesh/D017086
thalassemia major
erythroblastic anemia
Beta thalassemia minor
erythroblastic anaemia
Thalassemias, beta-
thalassemia, Hispanic gamma-delta-beta
Beta thalassemia intermedia