Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Microcephaly

Synonyms

Abnormally small skull

small cranium

Decreased size of head

Small skull

Reduced head circumference

Decreased size of cranium

Abnormally small head

Abnormally small cranium

Small head

small calvarium

Decreased size of skull

Decreased circumference of cranium

Small head circumference

Definitions

Head circumference below 2 standard deviations below the mean for age and gender. 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, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition

ID

http://purl.obolibrary.org/obo/HP_0000252

comment

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, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition

database_cross_reference

Fyler:4310

SNOMEDCT_US:271611007

UMLS:C4551563

definition

Head circumference below 2 standard deviations below the mean for age and gender.

has_alternative_id

HP:0001366

HP:0005485

HP:0005497

HP:0005489

has_broad_synonym

Decreased size of head

Small skull

Abnormally small head

Small head

has_exact_synonym

Abnormally small skull

small cranium

Reduced head circumference

Decreased size of cranium

Abnormally small cranium

small calvarium

Decreased size of skull

Decreased circumference of cranium

Small head circumference

has_obo_namespace

human_phenotype

id

HP:0000252

in_subset

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

label

Microcephaly

notation

HP:0000252

prefLabel

Microcephaly

treeView

http://purl.obolibrary.org/obo/HP_0040195

http://purl.obolibrary.org/obo/HP_0007364

subClassOf

http://purl.obolibrary.org/obo/HP_0040195

http://purl.obolibrary.org/obo/HP_0007364

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http://purl.obolibrary.org/obo/MONDO_0001149 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0001149 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D008831 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/HP_0000252 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/HP_0000252 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/ICD10/Q02 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q02 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU036340 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_10907 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_10907 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA05.0 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85874 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM