• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

罕见病知识管理:OntoOrpha和OMIM中邻近度测量的贡献。

Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM.

作者信息

Aimé X, Charlet J, Furst F, Kuntz P, Trichet F, Dhombres F

机构信息

ORPHANET, INSERM US24, France.

出版信息

Stud Health Technol Inform. 2012;180:88-92.

PMID:22874158
Abstract

In this paper, we introduce an application of Proxima and define a new measure of proximity between two concepts present in an ontology. The approach is based on the three dimensions of a conceptualization: intention with relations between concepts, expression with terms denoting concepts, and extension with instances of concepts. This preliminary work, in the field of rare diseases, involved the Orphanet Ontology of Rare Diseases (OntoOrpha) and corpus of texts extracted from Online Inheritance in Man (OMIM). The proximity measurements are consistent with an appropriate representation of groups of diseases in the ontology, which are derived from the Orphanet classifications of rare diseases. Other semantic relations are explored and new perspectives in medical knowledge curation are proposed.

摘要

在本文中,我们介绍了Proxima的一种应用,并定义了本体中两个概念之间接近度的一种新度量。该方法基于概念化的三个维度:概念之间具有关系的内涵、表示概念的术语的外延以及概念实例的扩展。这项在罕见病领域的初步工作涉及罕见病孤儿网络本体(OntoOrpha)和从《人类在线遗传》(OMIM)中提取的文本语料库。接近度测量与本体中疾病组的适当表示一致,这些疾病组源自罕见病的孤儿网络分类。还探索了其他语义关系,并提出了医学知识策展的新视角。

相似文献

1
Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM.罕见病知识管理:OntoOrpha和OMIM中邻近度测量的贡献。
Stud Health Technol Inform. 2012;180:88-92.
2
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology.HPO2Vec+:利用异构知识资源丰富人类表型本体的节点嵌入。
J Biomed Inform. 2019 Aug;96:103246. doi: 10.1016/j.jbi.2019.103246. Epub 2019 Jun 27.
3
A knowledge-driven approach to biomedical document conceptualization.基于知识的生物医学文献概念化方法。
Artif Intell Med. 2010 Jun;49(2):67-78. doi: 10.1016/j.artmed.2010.02.005. Epub 2010 Apr 3.
4
[Orphanet and its consortium: where to find expert-validated information on rare diseases].[欧洲罕见病组织及其联盟:获取罕见病专家验证信息的途径]
Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S3-8. doi: 10.1016/S0035-3787(13)70052-3.
5
A fuzzy expert system for diabetes decision support application.一种用于糖尿病决策支持应用的模糊专家系统。
IEEE Trans Syst Man Cybern B Cybern. 2011 Feb;41(1):139-53. doi: 10.1109/TSMCB.2010.2048899. Epub 2010 May 24.
6
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.健康信息系统中罕见病的表示:Orphanet 方法服务广泛的终端用户。
Hum Mutat. 2012 May;33(5):803-8. doi: 10.1002/humu.22078. Epub 2012 Apr 6.
7
Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization.利用统一医学语言系统作为罕见病数据标准化和协调的数据标准。
Methods Inf Med. 2020 Aug;59(4-05):131-139. doi: 10.1055/s-0040-1718940. Epub 2020 Nov 4.
8
eRAM: encyclopedia of rare disease annotations for precision medicine.eRAM:精准医学罕见病注释百科全书。
Nucleic Acids Res. 2018 Jan 4;46(D1):D937-D943. doi: 10.1093/nar/gkx1062.
9
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding.《国际疾病分类第11版》中的罕见病:通过适当编码使罕见病在健康信息系统中得以显现
Orphanet J Rare Dis. 2015 Mar 26;10:35. doi: 10.1186/s13023-015-0251-8.
10
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].[基因突变数据库:罕见遗传病的风险与前景]
Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1.

引用本文的文献

1
LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems.LORD:一种表型-基因型语义集成生物医学数据工具,用于支持健康信息系统中的罕见病诊断编码。
AMIA Annu Symp Proc. 2015 Nov 5;2015:434-40. eCollection 2015.
2
A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region's rare diseases registry.作为罕见病健康指标来源的基于人群的登记系统:威尼托地区罕见病登记系统的十年经验
Orphanet J Rare Dis. 2014 Mar 19;9:37. doi: 10.1186/1750-1172-9-37.