Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

inherited hemoglobinopathy
Synonyms

hemoglobinopathy

Hemoglobinopathies / iron metabolism

hereditary hemoglobinopathy

hemoglobinopathies

Definitions

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

ID

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

closeMatch

http://identifiers.org/meddra/10060892

exactMatch

http://identifiers.org/snomedct/427306008

http://identifiers.org/mesh/D006453

http://purl.obolibrary.org/obo/NCIT_C3092

http://www.orpha.net/ORDO/Orphanet_68364

http://purl.obolibrary.org/obo/DOID_2860

hasDbXref

ICD10CM:D58.0

ICD10CM:D58.1

MESH:D006453

MedDRA:10060892

Orphanet:68364

SCTID:427306008

DOID:2860

GARD:18883

ICD9:282.7

NCIT:C3092

hasExactSynonym

Hemoglobinopathies / iron metabolism

hereditary hemoglobinopathy

hemoglobinopathies

hasRelatedSynonym

hemoglobinopathy

IAO_0000115

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

id

MONDO:0019050

inSubset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

inherited hemoglobinopathy

notation

MONDO:0019050

prefLabel

inherited hemoglobinopathy

excluded_subClassOf

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0044348

http://purl.obolibrary.org/obo/MONDO_0003847

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