Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

cephalocele

Synonyms

cranium bifidum

cephalocele (disease)

encephalocele

cephalocele

Definitions

A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.

ID

http://purl.obolibrary.org/obo/MONDO_0017078

database_cross_reference

GARD:20967

ICD9:742.0

NCIT:C84687

Orphanet:268817

SCTID:55999004

icd11.foundation:1520916568

HP:0011815

definition

A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.

exactMatch

http://identifiers.org/snomedct/55999004

http://purl.obolibrary.org/obo/NCIT_C84687

http://purl.obolibrary.org/obo/Orphanet_268817

has_exact_synonym

cranium bifidum

cephalocele (disease)

encephalocele

cephalocele

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6876

IAO_0000589

cephalocele (disease)

id

MONDO:0017078

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

cephalocele

notation

MONDO:0017078

prefLabel

cephalocele

treeView

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0021147

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0021147

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