The International Society for the Study of Vascular Anomalies (ISSVA) ontology

• DOI: 10.1016/j.websem.2022.100731
• Publication Date: 2022-06-11T08:26:31Z
• Authors: Philip van Damme; Martijn G. Kersloot; Bruna dos Santos ...; Leo Schultze Kool; Ronald Cornet
• Keywords: Open Biomedical Ontologies

The International Society for the Study of Vascular Anomalies (ISSVA) provides a classification vascular anomalies that enables specialists to unambiguously classify diagnoses. This is only available in PDF format and not machine-readable, nor does it provide unique identifiers allow structured registration. In this paper, we describe process transforming ISSVA into an ontology. We also structure ontology, as well two applications ontology using examples from domain rare disease research. used expertise expert clinician during development process. semi-automatically added mappings relevant external ontologies automated matching systems manual assessment by experts. should contribute making data anomaly research more Findable, Accessible, Interoperable, Reusable (FAIR). at https://bioportal.bioontology.org/ontologies/ISSVA.