Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Schistosomiasis

Synonyms

Bilharziasis

Definitions

A rare parasitic disease characterized by infection with trematodes of the genus <i>Schistosoma</i>. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others.

ID

http://www.orpha.net/ORDO/Orphanet_1247

alternative_term

Bilharziasis

definition

A rare parasitic disease characterized by infection with trematodes of the genus Schistosoma. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1247

has_age_of_onset

All ages

has_inheritance

Not applicable

hasDbXref

ICD-10:B65.1

MeSH:D012552

OMIM:181460

UMLS:C0036323

ICD-10:B65.3

MedDRA:10039603

ICD-10:B65.9

ICD-10:B65.8

ICD-11:1F86.1

ICD-11:1F86.3

ICD-11:1F86.2

ICD-11:1F86.0

ICD-11:1F86

ICD-10:B65.2

ICD-10:B65.0

label

Schistosomiasis

notation

ORPHA:1247

part_of

http://www.orpha.net/ORDO/Orphanet_163588

prefixIRI

ORDO:Orphanet_1247

prefLabel

Schistosomiasis

present_in

Africa AND has_point_prevalence_range : >1 / 1000

Europe AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_163588

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://purl.obolibrary.org/obo/MONDO_0015254 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_258 HRDO LOOM
http://www.ebi.ac.uk/efo/EFO_1001475 EFO LOOM
rgo:01430 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_1395 DOID LOOM
http://purl.bioontology.org/ontology/CSP/2214-3713 CRISP LOOM
http://purl.bioontology.org/ontology/RCD/XE0ST RCD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1395 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0036323 OCHV LOOM
http://www.vodan-totafrica.info/vocs/vgt/Schistosomiasis VODANA-GENERAL LOOM
http://purl.bioontology.org/ontology/MESH/D012552 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#11082 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID13785 DERMLEX LOOM
http://purl.obolibrary.org/obo/OMIT_0013455 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012552 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C35000 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10039603 MEDDRA LOOM
http://purl.obolibrary.org/obo/DERMO_0002793 DERMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Schistosomiasis CSEO LOOM
http://id.nlm.nih.gov/mesh/D012552 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C03.335.865.859 RH-MESH LOOM
http://localhost/plosthes.2017-1#2286 PLOSTHES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038783 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0015254 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35000 NCIT LOOM
http://purl.obolibrary.org/obo/DOID_1395 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_1395 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1395 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1395 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1395 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1395 FNS-H LOOM
http://purl.jp/bio/4/id/200906039223608655 IOBC LOOM
http://www.gamuts.net/entity#schistosomiasis GAMUTS REST