The Human Phenotype Ontology in Ontoserver

[摘要] Ontologies have become a vital artefact to enable knowledge reuse and sharing. In healthcare SNOMED CT, from the International Health Terminologies Standards Development Organisation, is the standard clinical terminology. SNOMED CT is the most comprehensive clinical ontology currently available. Ontoserver is a state-of-the-art terminology server, based on HL7’s Fast Health Interoperable Resources (FHIR®) standard. Ontoserver is capable of storing and providing access to SNOMED CT and other custom code systems. Recently, there has been increasing interest in supporting ontologies from other domains. In the context of the Australian Genomics Health Alliance (AGHA), the interest has been specifically in adding support for the Human Phenotype Ontology (HPO).This report describes how support for HPO was added to Ontoserver. Several approaches were explored and an external transformation was chosen as the preferred mechanism. The challenges in the transformation are explained and a detailed overview of the mapping between the source OWL ontology and the target FHIR code system is provided. The mechanism chosen is extensible to other Web Ontology Language (OWL) based ontologies. The addition of HPO to Ontoserver makes it available via the same FHIR based API as SNOMED CT and other clinical terminologies, enabling HPO to be easily supported by clinical information systems. HPO can also be explored via the CSIRO Shrimp terminology browser. HPO together with SNOMED CT can provide a more comprehensive set of concepts to describe clinical findings. There are a number of further technical developments required so that these terminologies can work together to provide a full clinical phenotype for use in clinical decision support, phenotype-genotype databases and clinical and medical research.

[发布日期] 2016-11-22 [发布机构] CSIRO

[学科分类] 地球科学(综合)