Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Macrocephaly

Synonyms

Increased size of cranium

Macrocephalus

Macrocrania

Increased size of skull

Large head circumference

Megacephaly

Large head

Big cranium

Large cranium

Large skull

Large calvaria

Big calvaria

Increased size of head

Big head

Big skull

Definitions

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

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 broad synonym

Big cranium

Large cranium

Large skull

Large calvaria

Big calvaria

Increased size of head

Big head

Big skull

has exact synonym

Increased size of cranium

Macrocephalus

Macrocrania

Increased size of skull

Large head circumference

Megacephaly

Large head

has_alternative_id

HP:0005491

HP:0005496

HP:0200135

id

HP:0000256

in_subset

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

label

Macrocephaly

notation

HP:0000256

prefLabel

Macrocephaly

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0000256 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 DOID SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 HP SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 HHEAR SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 MAXO SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 OBA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.507.343 RH-MESH LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LB70.3 VODANADISEASES LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85005 ICPC2P LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058627 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21403 OCHV LOOM
http://www.gamuts.net/entity#macrocephaly GAMUTS LOOM
http://purl.bioontology.org/ontology/RCD/XE1Jp RCD LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002153 OMIM LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0056 IFAR LOOM
http://purl.jp/bio/4/id/200906079140911200 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Macrocephaly CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C35268 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35268 NCIT LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/macrocephaly MEPO LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/macrocephaly EPISEM LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/macrocephaly NEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050183 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1145403003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.3 ICD10CM LOOM
http://purl.org/obo/owl/HP#HP_0000256 BDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.3 ICD10 LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91054 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Macrocephaly PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG0H.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/HP_0000256 EFO LOOM
http://purl.obolibrary.org/obo/HP_0000256 DOID LOOM
http://purl.obolibrary.org/obo/HP_0000256 HP LOOM
http://purl.obolibrary.org/obo/HP_0000256 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0000256 OBA LOOM
http://purl.obolibrary.org/obo/HP_0000256 NIFSTD LOOM
http://purl.obolibrary.org/obo/HP_0000256 MAXO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507.374 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221355 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00002329 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.532 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Macrocephaly RPO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.536 RH-MESH LOOM