Human Phenotype Ontology

Last uploaded: October 9, 2018
Preferred Name

Macrocephaly

Synonyms

Big head

Increased size of head

Big calvaria

Megacephaly

Big skull

Increased size of cranium

Macrocrania

Large cranium

Large head

Large calvaria

Large head circumference

Increased size of skull

Large skull

Big cranium

Definitions

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.

ID

http://purl.obolibrary.org/obo/HP_0000256

comment

Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.

database_cross_reference

UMLS:C4083076

UMLS:C4280663

UMLS:C4280664

UMLS:C4255213

Fyler:4335

definition

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

has_alternative_id

HP:0005496

HP:0200135

HP:0005491

has_broad_synonym

Big head

Increased size of head

Big calvaria

Big skull

Large cranium

Large calvaria

Large skull

Big cranium

has_exact_synonym

Megacephaly

Increased size of cranium

Macrocrania

Large head

Large head circumference

Increased size of skull

has_obo_namespace

human_phenotype

id

HP:0000256

in_subset

http://purl.obolibrary.org/obo/hp#hposlim_core

label

Macrocephaly

notation

HP:0000256

prefLabel

Macrocephaly

treeView

http://purl.obolibrary.org/obo/HP_0040194

subClassOf

http://purl.obolibrary.org/obo/HP_0040194

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http://purl.bioontology.org/ontology/OMIM/MTHU002153 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.3 International Classification of Diseases, Version 10 LOOM
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http://purl.bioontology.org/ontology/MEDDRA/10050183 Medical Dictionary for Regulatory Activities LOOM
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http://purl.bioontology.org/ontology/RCD/XE1Jp Read Codes, Clinical Terms Version 3 (CTV3) LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Macrocephaly Resource of Asian Primary Immunodeficiency Diseases (RAPID) Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91054 Systematized Nomenclature of Medicine, International Version LOOM
http://purl.bioontology.org/ontology/RCTV2/PG0H.00 Read Clinical Terminology Version 2 LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85005 International Classification of Primary Care - 2 PLUS LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19410003 SNOMED CT LOOM
http://purl.jp/bio/4/id/200906079140911200 Interlinking Ontology for Biological Concepts LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.3 International Classification of Diseases, Version 10 - Clinical Modification LOOM
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http://www.gamuts.net/entity#macrocephaly Radiology Gamuts Ontology LOOM
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http://purl.obolibrary.org/obo/HP_0000256 Cell Culture Ontology LOOM
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http://purl.obolibrary.org/obo/HP_0000256 HPO - ORDO Ontological Module SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 Experimental Factor Ontology LOOM
http://purl.obolibrary.org/obo/HP_0000256 Experimental Factor Ontology SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 Combined Phenotype Ontology LOOM
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507.374 Robert Hoehndorf Version of MeSH LOOM
http://www.semanticweb.org/pallabi.d/ontologies/2014/2/untitled-ontology-11#Macrocephaly Cell Line Ontology [by Mahadevan] LOOM
http://purl.obolibrary.org/obo/DOID_2186 Human Disease Ontology LOOM
http://purl.obolibrary.org/obo/DOID_2186 Neuroscience Information Framework (NIF) Standard Ontology LOOM