Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Megalencephaly

Synonyms

Macrencephaly

Enlarged brain

Definitions

Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces. Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).

ID

http://purl.obolibrary.org/obo/HP_0001355

comment

Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces.

database_cross_reference

MSH:D058627

SNOMEDCT_US:19410003

UMLS:C0221355

definition

Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).

has broad synonym

Enlarged brain

has exact synonym

Macrencephaly

id

HP:0001355

label

Megalencephaly

notation

HP:0001355

prefLabel

Megalencephaly

subClassOf

http://purl.obolibrary.org/obo/HP_0002060

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0001355 HP SAME_URI
http://purl.obolibrary.org/obo/HP_0001355 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/HP_0001355 HP SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016608 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001355 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0016608 MONDO LOOM
http://purl.bioontology.org/ontology/RCTV2/P249.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567535 RH-MESH LOOM
http://www.case.edu/EpSO.owl#Megalencephaly MEPO LOOM
http://purl.obolibrary.org/obo/MONDO_0016608 DOVES LOOM
http://purl.bioontology.org/ontology/RCTV2/Q48y500 RCTV2 LOOM
http://www.orpha.net/ORDO/Orphanet_2477 ORDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10088459 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#26057 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/X77rO RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0266482 OCHV LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_42750 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D058627 MESH LOOM
http://id.nlm.nih.gov/mesh/D058627 MDM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085531 PMAPP-PMO LOOM
http://purl.org/obo/owl/HP#HP_0001355 BDO LOOM
http://www.case.edu/EpilepsyOntology.owl#Megalencephaly EPSO LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.5 ICD10 LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2290 HRDO LOOM
http://purl.obolibrary.org/obo/HP_0001355 HP LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.5 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.5 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIT_0027307 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004934 OMIM LOOM