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thalassemia

^ http://purl.obolibrary.org/obo/MONDO_0000984


An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. [ NCIT:P378 ]

Term info

database cross reference
  • NCIT:C35069 (MONDO:equivalentTo)
  • UMLS:C0039730 (NCIT:C35069)
  • MESH:D013789 (MONDO:equivalentTo)
  • GARD:0007756 (MONDO:shared-xref)
  • ICD9:282.49 (MONDO:relatedTo)
  • SCTID:40108008 (MONDO:equivalentTo)
  • ICD10CM:D56 (MONDO:equivalentTo)
  • DOID:10241 (MONDO:equivalentTo)
  • ICD9:282.40 (DOID:10241)
  • ICD9:282.4 (MONDO:i2s)
  • EFO:1001996 (MONDO:equivalentTo)
definition

An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/D56, http://linkedlifedata.com/resource/umls/id/C0039730, http://purl.obolibrary.org/obo/DOID_10241, http://purl.obolibrary.org/obo/NCIT_C35069, http://identifiers.org/mesh/D013789, http://identifiers.org/snomedct/40108008

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0006025

has exact synonym

sickle-cell thalassemia without crisis, sickle-cell thalassemia with crisis, thalassemia Hb-S disease without crisis, thalassemia Hb-S disease with crisis

id

MONDO:0000984