Download Abstract

SNOMED CT Expo 2016
Presentation or Poster Abstract
Development of Phenotypic Terminologies in China: SNOMED CT,
LOINC and HPO
Presenter: Gong Mengchun , Chinese Academy of Medical Sciences Rare Diseases Research Center
Audience
Representatives from healthcare IT innovative vendors that are seeking international cooperation
to implement technologies on integrated phenome-genome data platforms in China
Objectives
I would like to introduce the background of healthcare big data industry development and, based
on that, the technical needs for phenotypic ontologies/terminologies in China. Current situation of
research and, if any, application of LOINC, SNOMED CT and CHPO will be included.
Abstract
With the generalized implementation of HIS/EMR in hospitals and regional healthcare information
exchange platforms, healthcare big data industry is on the fast track of development in China and
has been positioned as one of the key directions of national science and technology development.
National Healthcare and Family Planning Committee of China has set up a research project to
analyze the feasibility, benefit and cost of using LOINC, which has been translated into Chinese, as
a standard terminology for lab test data sharing across institutes and regions. Within this project,
FHIR-Genomics is also reviewed and tested to support the genomics data exchange among institutes.
For SNOMED CT, more and more recognition are accumulated. More than 20 healthcare IT
technicians are taking part in the training courses provided by IHTSDO. For Human Phenotype
Ontology, which is a key bridge between clinical phenotypes and the genomics information, the
terms have been translated into Chinese. CHPO1 now provides the free search engine service and
the downloadable contents. It has been downloaded by more than 40 organizations, including
research institutes, hospitals, healthcare IT vendors, gene sequencing companies and
pharmaceutical companies.
Peking Union Medical College Hospital (PUMCH), with the technical support from Digital China
Health (DCH), is building up the national rare disease registry system, in which cohorts of more
than 60 rare diseases will be built and the clinical data, environmental and behavioral data,
geospacial data and omics data will be incorporated. LOINC, SNOMED CT and CHPO will be
constitute the core part of the terminology service of the registry system, since they are all
essential for the data collected for data mining in the area of rare diseases and orphan drug
development.
References
1. http://www.chinahpo.org