National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Hyperhomocysteinemia
Synonyms

Hyperhomocysteinemia

Definitions

A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84770

ALT_DEFINITION

Abnormally high level of homocysteine in the blood.

code

C84770

Concept_In_Subset

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C189762

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464

Contributing_Source

MedDRA

NICHD

DEFINITION

A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.

FULL_SYN

Hyperhomocysteinemia

label

Hyperhomocysteinemia

Maps_To

Hyperhomocysteinemia

Preferred_Name

Hyperhomocysteinemia

prefixIRI

Thesaurus:C84770

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C105126

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104946

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18500

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129049

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0598608

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84765

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9279 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0004743 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/419503008 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038579 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/OMIT_0020063 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C84770 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.654.521.500.133.699.418 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0598608 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.480 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_9279 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9279 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9279 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9279 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9279 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_9279 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9279 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0004743 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0004743 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0004743 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/603174 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055180 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hyperhomocysteinemia CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU070462 OMIM LOOM
http://www.pepathway.org/peo/1.2#Hyperhomocysteinemia PE-O LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020138 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#41917 OCHV LOOM
http://pat.nichd.nih.gov/maternalconditions/C0598608 PATMHC LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:01198 MIO LOOM
http://doe-generated-ontology.com/OntoAD#C0598608 ONTOAD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.603.378 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D020138 MDM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9279 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.480 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D020138 MESH LOOM