National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Hemoglobinopathy
Synonyms

Hemoglobinopathies / Iron Metabolism

Hemoglobinopathy
Definitions

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3092
ALT_DEFINITION

Normal or abnormal findings related to the structural alterations of a globin chain within the hemoglobin molecule.

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

C3092
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158035

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

ACC/AHA

CPTAC

NICHD
DEFINITION

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

Hemoglobinopathies / Iron Metabolism

Hemoglobinopathy
label

Hemoglobinopathy
Legacy Concept Name

Hemoglobinopathy
Preferred_Name

Hemoglobinopathy
prefixIRI

Thesaurus:C3092
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0019045
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104003
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0044348 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 OBA LOOM
http://purl.obolibrary.org/obo/DOID_2860 DOID LOOM
http://purl.bioontology.org/ontology/CSP/1418-5657 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019045 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C3092 BERO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_bf38d63d_72d6_4d9b_8e1a_090467cf5132 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_bf38d63d_72d6_4d9b_8e1a_090467cf5132 CVAO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/80141007 SNOMEDCT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hemoglobinopathy PEDTERM LOOM
http://www.orpha.net/ORDO/Orphanet_68364 ORDO LOOM
http://pat.nichd.nih.gov/maternalconditions/C0019045 PATMHC LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 GENEPIO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemoglobinopathy CSEO LOOM
http://purl.obolibrary.org/obo/SCDO_0000552 SCDO LOOM
http://purl.obolibrary.org/obo/DOID_2860 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2860 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2860 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2860 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2860 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2860 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055610 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2860 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10503 HRDO LOOM