Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Cystic fibrosis

Synonyms

CF

Definitions

A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.

ID

http://www.orpha.net/ORDO/Orphanet_586

alternative_term

CF

Mucoviscidosis

definition

A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

ICD-10:E84.8

OMIM:219700

UMLS:C0010674

ICD-11:CA25

MeSH:D003550

ICD-10:E84.0

ICD-10:E84.1

MedDRA:10011762

label

Cystic fibrosis

notation

ORPHA:586

part_of

http://www.orpha.net/ORDO/Orphanet_165661

http://www.orpha.net/ORDO/Orphanet_506210

http://www.orpha.net/ORDO/Orphanet_399824

http://www.orpha.net/ORDO/Orphanet_101937

http://www.orpha.net/ORDO/Orphanet_156610

http://www.orpha.net/ORDO/Orphanet_506222

http://www.orpha.net/ORDO/Orphanet_156607

http://www.orpha.net/ORDO/Orphanet_101941

http://www.orpha.net/ORDO/Orphanet_101944

http://www.orpha.net/ORDO/Orphanet_400003

prefixIRI

ORDO:Orphanet_586

prefLabel

Cystic fibrosis

present_in

Europe AND has_point_prevalence_average_value : 11.1319 AND has_point_prevalence_range : 1-5 / 10 000

Finland AND has_point_prevalence_average_value : 1.1027 AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_birth_prevalence_average_value : 41.9991 AND has_birth_prevalence_range : 1-5 / 10 000

Russian Federation AND has_birth_prevalence_average_value : 9.7119 AND has_birth_prevalence_range : 1-9 / 100 000

Estonia AND has_birth_prevalence_average_value : 22.2222 AND has_birth_prevalence_range : 1-5 / 10 000

Germany AND has_point_prevalence_average_value : 11.1954 AND has_point_prevalence_range : 1-5 / 10 000

Sweden AND has_birth_prevalence_average_value : 17.9285 AND has_birth_prevalence_range : 1-5 / 10 000

Spain AND has_point_prevalence_average_value : 9.4749 AND has_point_prevalence_range : 1-9 / 100 000

Poland AND has_point_prevalence_average_value : 10.0394 AND has_point_prevalence_range : 1-5 / 10 000

Austria AND has_birth_prevalence_average_value : 28.5714 AND has_birth_prevalence_range : 1-5 / 10 000

France AND has_point_prevalence_average_value : 12.1416 AND has_point_prevalence_range : 1-5 / 10 000

Denmark AND has_birth_prevalence_average_value : 17.41 AND has_birth_prevalence_range : 1-5 / 10 000

China AND has_point_prevalence_average_value : 0.7786 AND has_point_prevalence_range : 1-9 / 1 000 000

Ireland AND has_birth_prevalence_average_value : 36.36 AND has_birth_prevalence_range : 1-5 / 10 000

Austria AND has_point_prevalence_average_value : 8.39 AND has_point_prevalence_range : 1-9 / 100 000

Slovenia AND has_birth_prevalence_average_value : 33.3333 AND has_birth_prevalence_range : 1-5 / 10 000

Czech Republic AND has_point_prevalence_average_value : 8.7775 AND has_point_prevalence_range : 1-9 / 100 000

Norway AND has_birth_prevalence_average_value : 11.5474 AND has_birth_prevalence_range : 1-5 / 10 000

Slovakia AND has_point_prevalence_average_value : 8.8292 AND has_point_prevalence_range : 1-9 / 100 000

Spain AND has_birth_prevalence_average_value : 16.5048 AND has_birth_prevalence_range : 1-5 / 10 000

Germany AND has_birth_prevalence_average_value : 19.5017 AND has_birth_prevalence_range : 1-5 / 10 000

Bulgaria AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000

Estonia AND has_point_prevalence_average_value : 6.18 AND has_point_prevalence_range : 1-9 / 100 000

Luxembourg AND has_point_prevalence_average_value : 4.31 AND has_point_prevalence_range : 1-9 / 100 000

Belgium AND has_point_prevalence_average_value : 20.1429 AND has_point_prevalence_range : 1-5 / 10 000

Czech Republic AND has_birth_prevalence_average_value : 15.29 AND has_birth_prevalence_range : 1-5 / 10 000

Russian Federation AND has_point_prevalence_average_value : 5.5753 AND has_point_prevalence_range : 1-9 / 100 000

Brazil AND has_annual_incidence_average_value : 13.1995 AND has_annual_incidence_range : 1-5 / 10 000

Latvia AND has_point_prevalence_average_value : 1.04 AND has_point_prevalence_range : 1-9 / 100 000

Greece AND has_birth_prevalence_average_value : 28.5714 AND has_birth_prevalence_range : 1-5 / 10 000

Lithuania AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_point_prevalence_average_value : 9.9946 AND has_point_prevalence_range : 1-9 / 100 000

Ireland AND has_point_prevalence_average_value : 20.8733 AND has_point_prevalence_range : 1-5 / 10 000

Latvia AND has_birth_prevalence_range : Unknown

Lithuania AND has_birth_prevalence_range : Unknown

Romania AND has_birth_prevalence_average_value : 48.6381 AND has_birth_prevalence_range : 1-5 / 10 000

Norway AND has_point_prevalence_average_value : 6.629 AND has_point_prevalence_range : 1-9 / 100 000

Malta AND has_birth_prevalence_range : Unknown

Poland AND has_birth_prevalence_average_value : 17.4881 AND has_birth_prevalence_range : 1-5 / 10 000

Cyprus AND has_birth_prevalence_average_value : 12.6358 AND has_birth_prevalence_range : 1-5 / 10 000

Greece AND has_point_prevalence_average_value : 5.21 AND has_point_prevalence_range : 1-9 / 100 000

Netherlands AND has_point_prevalence_average_value : 9.5181 AND has_point_prevalence_range : 1-9 / 100 000

Slovakia AND has_birth_prevalence_average_value : 15.38 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 19.3912 AND has_birth_prevalence_range : 1-5 / 10 000

Italy AND has_birth_prevalence_average_value : 17.809 AND has_birth_prevalence_range : 1-5 / 10 000

Romania AND has_point_prevalence_average_value : 1.06 AND has_point_prevalence_range : 1-9 / 100 000

Finland AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000

Malta AND has_point_prevalence_average_value : 5.79 AND has_point_prevalence_range : 1-9 / 100 000

Portugal AND has_point_prevalence_average_value : 7.204 AND has_point_prevalence_range : 1-9 / 100 000

France AND has_birth_prevalence_average_value : 21.15 AND has_birth_prevalence_range : 1-5 / 10 000

Slovenia AND has_point_prevalence_average_value : 3.28 AND has_point_prevalence_range : 1-9 / 100 000

Bulgaria AND has_point_prevalence_average_value : 2.26 AND has_point_prevalence_range : 1-9 / 100 000

Netherlands AND has_birth_prevalence_average_value : 16.58 AND has_birth_prevalence_range : 1-5 / 10 000

Sweden AND has_point_prevalence_average_value : 10.2922 AND has_point_prevalence_range : 1-5 / 10 000

Belgium AND has_birth_prevalence_average_value : 35.0877 AND has_birth_prevalence_range : 1-5 / 10 000

Hungary AND has_birth_prevalence_range : Unknown

Luxembourg AND has_birth_prevalence_range : Unknown

United Kingdom AND has_point_prevalence_average_value : 13.7 AND has_point_prevalence_range : 1-5 / 10 000

Portugal AND has_birth_prevalence_average_value : 12.549 AND has_birth_prevalence_range : 1-5 / 10 000

Cyprus AND has_point_prevalence_average_value : 3.35 AND has_point_prevalence_range : 1-9 / 100 000

Hungary AND has_point_prevalence_average_value : 4.09 AND has_point_prevalence_range : 1-9 / 100 000

Italy AND has_point_prevalence_average_value : 10.2236 AND has_point_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_165661

http://www.orpha.net/ORDO/Orphanet_506210

http://www.orpha.net/ORDO/Orphanet_399824

http://www.orpha.net/ORDO/Orphanet_101937

http://www.orpha.net/ORDO/Orphanet_156610

http://www.orpha.net/ORDO/Orphanet_506222

http://www.orpha.net/ORDO/Orphanet_156607

http://www.orpha.net/ORDO/Orphanet_101941

http://www.orpha.net/ORDO/Orphanet_101944

http://www.orpha.net/ORDO/Orphanet_400003

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.orpha.net/ORDO/Orphanet_586 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009061 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 EFO LOOM
http://purl.obolibrary.org/obo/DOID_1485 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_1201021 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200205 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100035 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200922 NANDO LOOM
http://www.projecthalo.com/aura#Cystic-Fibrosis AURA LOOM
http://purl.obolibrary.org/obo/DOID_1485 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1485 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1485 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1485 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1485 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_1485 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1485 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/1849-2089 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010674 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036774 PMAPP-PMO LOOM
http://www.ebi.ac.uk/efo/EFO_0000390 CLO LOOM
http://purl.bioontology.org/ontology/ICD10/E84 ICD10 LOOM
http://radlex.org/RID/RID34638 RADLEX LOOM
http://pat.nichd.nih.gov/maternalconditions/C0010674 PATMHC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.213 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C08.381.187 RH-MESH LOOM
http://www.gamuts.net/entity#cystic_fibrosis GAMUTS LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 PNADO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.190 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/LNC/LA22202-8 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021607 LOINC LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99053 ICPC2P LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1485 NATPRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17713 DERMLEX LOOM
http://purl.bioontology.org/ontology/LNC/LP56779-9 LOINC LOOM
http://localhost/plosthes.2017-1#1670 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.689.202 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003550 MESH LOOM
http://www.limics.fr/ontologies/ontolurgences#FibroseKystique ONTOLURGENCES LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GENEPIO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E84 ICD10CM LOOM
http://purl.bioontology.org/ontology/RCTV2/C370.00 RCTV2 LOOM
urn:agi-folder:cystic_fibrosis BPT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Cystic_Fibrosis PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2975 NCIT LOOM
http://purl.bioontology.org/ontology/NLMVS/2.16.840.1.113883.3.464.1003.102.12.1002 NLMVS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Cystic_Fibrosis APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Cystic_Fibrosis APAONTO LOOM
http://purl.bioontology.org/ontology/OMIM/219700 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D6-94800 SNMI LOOM
http://purl.obolibrary.org/obo/OMIT_0004836 OMIT LOOM
http://www.co-ode.org/ontologies/galen#CysticFibrosis GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003550 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011762 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_219700 CCO LOOM
http://purl.jp/bio/4/id/200906061608250536 IOBC LOOM
http://identifiers.org/omim/219700 REXO LOOM
http://identifiers.org/omim/219700 GEXO LOOM
http://identifiers.org/omim/219700 RETO LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.0 ICD9CM LOOM
http://purl.obolibrary.org/obo/NCIT_C2975 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3553 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/C370. RCD LOOM
http://www.owl-ontologies.com/assert.owl#Cystic_fibrosis ONTOKBCF LOOM
http://www.limics.org/hrdo/rdfns#pat_id_49 HRDO LOOM
http://www.gamuts.net/entity#cystic_fibrosis GAMUTS REST