Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Macrocephaly

Synonyms

Big head

Increased size of head

Big calvaria

Megacephaly

Big skull

Increased size of cranium

Macrocrania

Macrocephalus

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

Macrocephalus

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.obo#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 / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.3 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35268 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LB70.3 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.obolibrary.org/obo/HP_0000256 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0000256 Human Disease Ontology / 人类疾病本体 SAME_URI
http://purl.obolibrary.org/obo/HP_0000256 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/HP_0000256 Experimental Factor Ontology / 实验性因素本体 SAME_URI