Terminology Service for NFDI4Health

inherited hemoglobinopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0019050


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

Term info

Label

inherited hemoglobinopathy

Synonyms
  • Hemoglobinopathies / iron metabolism
  • hemoglobinopathies
  • hereditary hemoglobinopathy
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

broadMatch

https://icd.codes/icd10cm/D58.8, https://icd.codes/icd10cm/D57.8, https://icd.codes/icd10cm/D56.9, https://icd.codes/icd10cm/D58.9, https://icd.codes/icd10cm/D56.8, https://icd.codes/icd10cm/D57.1, https://icd.codes/icd10cm/D56.1, https://icd.codes/icd10cm/D57.0, https://icd.codes/icd10cm/D56.4, https://icd.codes/icd10cm/D58.2, https://icd.codes/icd10cm/D57.3, https://icd.codes/icd10cm/D57.2

closeMatch

http://identifiers.org/meddra/10060892

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 related synonym

hemoglobinopathy

id

MONDO:0019050

Term relations