Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Locked-in syndrome

Synonyms

Cerebromedullospinal disconnection

Definitions

Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.

ID

http://www.orpha.net/ORDO/Orphanet_2406

alternative_term

Cerebromedullospinal disconnection

definition

Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406

has_age_of_onset

All ages

has_inheritance

Not applicable

hasDbXref

UMLS:C0023944

ICD-11:8E45

MedDRA:10024792

ICD-10:G83.8

MeSH:D000080422

label

Locked-in syndrome

notation

ORPHA:2406

part_of

http://www.orpha.net/ORDO/Orphanet_98006

prefixIRI

ORDO:Orphanet_2406

prefLabel

Locked-in syndrome

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 33.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_98006

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_0016567 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_12697 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016567 DOVES LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/locked_in_syndrome MEPO LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/locked_in_syndrome EPISEM LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/locked_in_syndrome NEO LOOM
http://purl.bioontology.org/ontology/MESH/D000080422 MESH LOOM
http://purl.jp/bio/4/id/200906095252147311 IOBC LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571346083343495362 ACVD_ONTOLOGY LOOM
http://localhost/plosthes.2017-1#3102 PLOSTHES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0023944 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/38023001 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12697 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10024792 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7521 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/DA-26008 SNMI LOOM
http://purl.obolibrary.org/obo/DOID_12697 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12697 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12697 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12697 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12697 FNS-H LOOM
http://id.nlm.nih.gov/mesh/D000080422 MDM LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_030aa9bb_7af8_4999_bceb_96eab72c83a7 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_030aa9bb_7af8_4999_bceb_96eab72c83a7 CVAO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_751 HRDO LOOM