JSON

inherited hemoglobinopathy

^ http://purl.obolibrary.org/obo/MONDO_0019050

An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. [ NCIT:C3092 ]

Term info

database cross reference
  • UMLS:C0019045 (Orphanet:68364/e)
  • ICD10CM:D58.0 (Orphanet:68364/btnt)
  • GARD:0012455 (MONDO:equivalentTo)
  • DOID:2860 (MONDO:equivalentTo)
  • MESH:D006453 (Orphanet:68364/e)
  • UMLS:C1960031 (MONDO:equivalentTo)
  • NCIT:C3092 (MONDO:exact-label-match)
  • MedDRA:10060892 (Orphanet:68364/e)
  • Orphanet:68364 (MONDO:equivalentTo)
  • SCTID:427306008 (MONDO:equivalentTo)
  • ICD9:282.7 (MONDO:relatedTo)
  • ICD10CM:D58.1 (Orphanet:68364/btnt)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10060892

definition

An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.

exactMatch

http://identifiers.org/snomedct/427306008, http://purl.obolibrary.org/obo/Orphanet_68364, http://purl.obolibrary.org/obo/DOID_2860, http://identifiers.org/mesh/D006453, http://purl.obolibrary.org/obo/NCIT_C3092, http://linkedlifedata.com/resource/umls/id/C0019045, http://linkedlifedata.com/resource/umls/id/C1960031

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0003689

has exact synonym

hemoglobinopathies, Hemoglobinopathies / iron metabolism, hereditary hemoglobinopathy

has related synonym

hemoglobinopathy

id

MONDO:0019050

Term relations