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[第一版口腔罕见病名录]

[The first edition of oral rare diseases list].

作者信息

Duan X H

机构信息

Clinic of Oral Rare Diseases and Genetic Diseases, Department of Oral Biology, School of Stomatology, The Fourth Military Medical University & State Key Laboratory of Military Stomatology & National Clinical Research Center for Oral Diseases & Shaanxi Key Laboratory of Stomatology, Xi'an 710032, China.

出版信息

Zhonghua Kou Qiang Yi Xue Za Zhi. 2020 Jul 9;55(7):494-500. doi: 10.3760/cma.j.cn112144-20200226-00092.

Abstract

Oral rare diseases are characterized by low prevalence and complex clinical features. It is not clear that which kind of diseases belong to oral rare diseases. In order to make a consensus and improve the level of diagnosis and treatment of oral rare diseases, Duan Xiaohong, the first chair of Society of Oral Genetic Diseases and Rare Diseases, Chinese Stomatological Association, progosed the first edition of oral rare diseases list, and the whole society discussed the list and finally made an agreement. The list includes 139 rare diseases with typical oral and craniofacial characteristics, and provides their Chinese names, English names, International Classification of Diseases 11th Revision (ICD-11) codes, Online Mendelian Inheritance in Man (OMIM) numbers, prevalence and simple interpretations.

摘要

口腔罕见病具有患病率低和临床特征复杂的特点。目前尚不清楚哪些疾病属于口腔罕见病。为达成共识并提高口腔罕见病的诊断和治疗水平,中华口腔医学会口腔遗传病与罕见病专业委员会首任主委段小红提出了第一版口腔罕见病名录,全社会对该名录进行了讨论并最终达成一致。该名录包含139种具有典型口腔颌面部特征的罕见病,并提供了它们的中文名、英文名、国际疾病分类第11版(ICD-11)编码、人类孟德尔遗传在线(OMIM)编号、患病率及简要解读。

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