Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Essential thrombocythemia

Synonyms

Essential thrombocytosis

Definitions

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ID

http://www.orpha.net/ORDO/Orphanet_3318

alternative_term

Essential thrombocytosis

ET

definition

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318

has_age_of_onset

All ages

has_inheritance

Not applicable

Multigenic/multifactorial

hasDbXref

MedDRA:10015493

OMIM:187950

ICD-10:D47.3

OMIM:614521

ICD-11:3B63.1Z

MeSH:D013920

OMIM:601977

UMLS:C0040028

label

Essential thrombocythemia

notation

ORPHA:3318

part_of

http://www.orpha.net/ORDO/Orphanet_248404

http://www.orpha.net/ORDO/Orphanet_98274

prefixIRI

ORDO:Orphanet_3318

prefLabel

Essential thrombocythemia

present_in

Sweden AND has_annual_incidence_average_value : 1.55 AND has_annual_incidence_range : 1-9 / 100 000

Sweden AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000

United States AND has_point_prevalence_average_value : 24.0 AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_annual_incidence_average_value : 0.48 AND has_annual_incidence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_248404

http://www.orpha.net/ORDO/Orphanet_98274

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_0000479 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0005029 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100194 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_2224 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200655 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10015494 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0040028 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/128844009 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3407 NCIT LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000039361 PDQ LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_cba78045_a7e6_4048_b1bb_3c355c0f7c10 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_cba78045_a7e6_4048_b1bb_3c355c0f7c10 CVAO LOOM
http://purl.obolibrary.org/obo/DOID_2224 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2224 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2224 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2224 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2224 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2224 FNS-H LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:00081 MIO LOOM
http://purl.obolibrary.org/obo/NCIT_C3407 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU052359 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0005029 DOVES LOOM
http://purl.jp/bio/4/id/200906069534803369 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Essential_Thrombocythemia CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3599 HRDO LOOM
http://purl.bioontology.org/ontology/ICD9CM/238.71 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/238.71 NLMVS LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/109994006 SNOMEDCT LOOM