Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
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

UMLS:C0221355

SNOMEDCT_US:19410003

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

has_obo_namespace

human_phenotype

id

HP:0001355

label

Megalencephaly

notation

HP:0001355

prefLabel

Megalencephaly

treeView

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

subClassOf

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

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