An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. [ NCIT:C3092 ]
Synonyms: hemoglobinopathies Hemoglobinopathies / iron metabolism hereditary hemoglobinopathy
Term information
- SCTID:427306008 (MONDO:equivalentTo)
- ICD10CM:D58.1 (Orphanet:68364/btnt)
- ICD10CM:D58.0 (Orphanet:68364/btnt)
- DOID:2860 (MONDO:equivalentTo)
- Orphanet:68364 (MONDO:equivalentTo)
- MedDRA:10060892 (Orphanet:68364/e)
- NCIT:C3092 (MONDO:exact-label-match)
- MESH:D006453 (Orphanet:68364/e)
- ICD9:282.7 (MONDO:relatedTo)
- GARD:18883 (MONDO:GARD)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://identifiers.org/snomedct/427306008
http://purl.obolibrary.org/obo/DOID_2860
http://identifiers.org/mesh/D006453
http://purl.obolibrary.org/obo/NCIT_C3092
http://www.orpha.net/ORDO/Orphanet_68364