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

国际血管异常研究学会 (ISSVA) 提供了一种血管异常分类，使专家能够明确地对诊断进行分类。此分类仅提供 PDF 格式，机器不可读，也不提供允许结构化注册的唯一标识符。在本文中，我们描述了将 ISSVA 分类转换为本体的过程。我们还使用罕见病研究领域的示例描述了该本体的结构，以及该本体的两个应用。在开发过程中，我们使用了本体专家和临床医生的专业知识。我们使用自动本体匹配系统和专家手动评估半自动地将映射添加到相关的外部本体。ISSVA 本体应有助于使血管异常研究的数据更加可查找、可访问、可互操作和可重复使用 (FAIR)。本体可在 https://bioportal.bioontology.org/ontologies/ISSVA 获得。