Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Coloboma
Synonyms

Coloboma, Ocular

Colobomas
Definitions

Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
ID

http://purl.bioontology.org/ontology/MESH/D003103
altLabel

Coloboma, Ocular

Uveoretinal Colobomas

Coloboma, Uveoretinal

Ocular Coloboma

Ocular Colobomas

Coloboma Of Iris, Choroid, And Retina

Colobomas, Uveoretinal

Uveoretinal Coloboma

Colobomas, Ocular

Colobomas
AN

coordinate with specific site in eye /abnorm
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C4554007

C0009363
DC

1
definition

Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
DX

19730101
HN

73(65)
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation

73
Mapped from

http://purl.bioontology.org/ontology/MESH/C564509

http://purl.bioontology.org/ontology/MESH/C537463

http://purl.bioontology.org/ontology/MESH/C537462

http://purl.bioontology.org/ontology/MESH/C537962

http://purl.bioontology.org/ontology/MESH/C566623

http://purl.bioontology.org/ontology/MESH/C537906

http://purl.bioontology.org/ontology/MESH/C567196

http://purl.bioontology.org/ontology/MESH/C535968

http://purl.bioontology.org/ontology/MESH/C535969

http://purl.bioontology.org/ontology/MESH/C535967

http://purl.bioontology.org/ontology/MESH/C538338

http://purl.bioontology.org/ontology/MESH/C537168

http://purl.bioontology.org/ontology/MESH/C536729

http://purl.bioontology.org/ontology/MESH/C565462

http://purl.bioontology.org/ontology/MESH/C566373

http://purl.bioontology.org/ontology/MESH/C000721288

http://purl.bioontology.org/ontology/MESH/C536713

http://purl.bioontology.org/ontology/MESH/C565902

http://purl.bioontology.org/ontology/MESH/C567512

http://purl.bioontology.org/ontology/MESH/C535971

http://purl.bioontology.org/ontology/MESH/C535970

http://purl.bioontology.org/ontology/MESH/C566271

http://purl.bioontology.org/ontology/MESH/C565686

http://purl.bioontology.org/ontology/MESH/C564769

http://purl.bioontology.org/ontology/MESH/C538323

http://purl.bioontology.org/ontology/MESH/C536588

http://purl.bioontology.org/ontology/MESH/C566899

http://purl.bioontology.org/ontology/MESH/C566484

http://purl.bioontology.org/ontology/MESH/C564531

http://purl.bioontology.org/ontology/MESH/C535812

http://purl.bioontology.org/ontology/MESH/C563482

http://purl.bioontology.org/ontology/MESH/C565173

http://purl.bioontology.org/ontology/MESH/C565300

http://purl.bioontology.org/ontology/MESH/C537430

http://purl.bioontology.org/ontology/MESH/C536135

http://purl.bioontology.org/ontology/MESH/C536022

http://purl.bioontology.org/ontology/MESH/C566447

http://purl.bioontology.org/ontology/MESH/C566448

http://purl.bioontology.org/ontology/MESH/C565378

http://purl.bioontology.org/ontology/MESH/C536430

http://purl.bioontology.org/ontology/MESH/C537888

http://purl.bioontology.org/ontology/MESH/C536959
MDA

19990101
MMR

20190705
MN

C11.270.147

C11.250.110

C16.131.384.282
notation

D003103
prefLabel

Coloboma
TERMUI

T841141

T811468

T841140

T811467

T811466

T009043
TH

NLM (1965)

OMIM (2013)

GHR (2014)

NLM (2014)
tui

T019
subClassOf

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D005124
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU019860 OMIM CUI
http://purl.bioontology.org/ontology/LNC/LA24662-1 LOINC CUI
http://purl.bioontology.org/ontology/OMIM/120200 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10009937 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/93390002 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000810 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q13.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/93390002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10009934 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X77st RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10009934 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU069378 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU042339 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10009934 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D003103 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10009937 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026213 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026549 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0006 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/DA-70340 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/MTHU003777 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/120200 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/607108 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10009937 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/606608 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU060258 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012405 OMIM CUI
http://purl.obolibrary.org/obo/HP_0000589 MAXO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0000589 OBA LOOM
http://purl.obolibrary.org/obo/HP_0000589 DOID LOOM
http://purl.obolibrary.org/obo/HP_0000589 HP LOOM
http://purl.obolibrary.org/obo/HP_0000589 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0000589 OBA LOOM
http://purl.obolibrary.org/obo/HP_0000589 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000589 NIFSTD LOOM
http://purl.obolibrary.org/obo/HP_0000589 MAXO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0308 IFAR LOOM
http://purl.bioontology.org/ontology/LNC/LA24662-1 LOINC LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0336 IFAR LOOM
http://purl.obolibrary.org/obo/DOID_12270 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12270 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12270 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12270 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12270 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12270 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12270 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10009934 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003103 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.250.110 RH-MESH LOOM
http://purl.jp/bio/4/id/200906041984704695 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0004412 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.384.282 RH-MESH LOOM
http://purl.org/obo/owl/HP#HP_0000589 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0009363 OCHV LOOM
http://purl.obolibrary.org/obo/MP_0005262 MP LOOM
http://purl.obolibrary.org/obo/MP_0005262 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005262 CHIRO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0001476 KTAO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12270 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085377 PMAPP-PMO LOOM
http://www.gamuts.net/entity#coloboma GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012405 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3167 OCHV LOOM