EpilepsyOntology

Last uploaded: November 8, 2021
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Preferred Name

megalencephaly (disease)
Synonyms

macroencephaly

megalencephaly
Definitions

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).
ID

http://purl.obolibrary.org/obo/MONDO_0016608
database_cross_reference

MedDRA:10050183

MESH:D058627

SCTID:9740002

Orphanet:2477

ICD10:Q04.5

HP:0001355

ICD9:742.4
exactMatch

http://identifiers.org/meddra/10050183

http://identifiers.org/mesh/D058627

http://www.orpha.net/ORDO/Orphanet_2477

http://linkedlifedata.com/resource/umls/id/C2720434

http://identifiers.org/snomedct/9740002

http://linkedlifedata.com/resource/umls/id/C0221355
fromEpSO

fromPubMed

true
has exact synonym

macroencephaly

megalencephaly
hasDbXRef

https://www.ncbi.nlm.nih.gov/pubmed/28658095
id

MONDO:0016608
imported from

http://purl.obolibrary.org/obo/mondo.owl
in subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome
label

megalencephaly (disease)
notation

MONDO:0016608
prefLabel

megalencephaly (disease)
see also

http://www.case.edu/EpSO.owl#Megalencephaly
文本定义

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).
subClassOf

http://purl.obolibrary.org/obo/DOID_936
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