An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project

BMC Medicine

Commentary

Leslie G Biesecker¹ 

[1] Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;

关键词: Alternative Objective;    Phenotype Ontology;    Human Phenotype Ontology;    Subjective Definition;    Wide Research Community;   

DOI  :  10.1186/1741-7015-8-56

 received in 2010-08-20, accepted in 2010-10-04,  发布年份 2010

来源: Springer

【 摘 要 】

Human structural malformations (anomalies or birth defects) have an enormous and complex range of manifestations and severity. The description of these findings can be challenging because the variation of many of the features is continuous and only some of them can be objectively assessed (that is, measured), among other factors. An international group of clinicians resolved to develop a set of terms that could be used to describe human structural malformations, under the general project name 'Elements of Morphology'. Here, the background to the project, progress to date, and the practical implementation of the terminology in research reporting is discussed.

【 授权许可】

CC BY   
© Biesecker; licensee BioMed Central Ltd. 2010