National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Paroxysmal Nocturnal Hemoglobinuria

Synonyms

paroxysmal nocturnal hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal Hemoglobinuria

PNH

Definitions

A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61233

ALT_DEFINITION

A rare disorder in which red blood cells are easily destroyed by certain immune system proteins. Symptoms include blood clots, and red or brownish urine in the morning. Aplastic anemia (decreased production of blood cells) may lead to PNH, and people with PNH are at increased risk of acute myelogenous leukemia.

code

C61233

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

CTRP

DEFINITION

A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene.

Display_Name

Paroxysmal Nocturnal Hemoglobinuria

FULL_SYN

paroxysmal nocturnal hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal Hemoglobinuria

PNH

label

Paroxysmal Nocturnal Hemoglobinuria

Legacy Concept Name

Paroxysmal_Nocturnal_Hemoglobinuria

Preferred_Name

Paroxysmal Nocturnal Hemoglobinuria

prefixIRI

Thesaurus:C61233

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0024790

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26324

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/OMIM_300818 CCO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-15600 SNMI LOOM
http://www.limics.fr/ontologies/ontolurgences#HemoglobinurieNocturneParoxystique ONTOLURGENCES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00008171 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_447 ORDO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_64599171_5fff_45c6_b111_bf447c351abc STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_64599171_5fff_45c6_b111_bf447c351abc CVAO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000471836 PDQ LOOM
http://purl.bioontology.org/ontology/CSP/1418-5897 CRISP LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0100244 KTAO LOOM
http://id.nlm.nih.gov/mesh/D006457 MDM LOOM
http://purl.obolibrary.org/obo/NCIT_C61233 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055629 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_21 HRDO LOOM
http://www.gamuts.net/entity#paroxysmal_nocturnal_hemoglobinuria GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0003178 DERMO LOOM
http://purl.obolibrary.org/obo/HP_0004818 HP LOOM
http://purl.obolibrary.org/obo/HP_0004818 UPHENO LOOM
http://purl.obolibrary.org/obo/DOID_0060284 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060284 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060284 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060284 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060284 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1963002 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Paroxysmal_Nocturnal_Hemoglobinuria CSEO LOOM