TY - JOUR
T1 - The International Society for the Study of Vascular Anomalies (ISSVA) ontology
AU - van Damme, Philip
AU - Kersloot, Martijn G.
AU - dos Santos Vieira, Bruna
AU - Schultze Kool, Leo
AU - Cornet, Ronald
N1 - Funding Information: MK's work is supported by funding from Castor. PvD, BV, and RC's work is supported by the funding from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N°825575. BV and LSK are members of the Vascular Anomalies Working Group (VASCA WG) of the European Reference Network for Rare Multisystemic Vascular Diseases (VASCERN) - Project ID: 769036. Funding Information: MK’s work is supported by funding from Castor . PvD, BV, and RC’s work is supported by the funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575 . BV and LSK are members of the Vascular Anomalies Working Group (VASCA WG) of the European Reference Network for Rare Multisystemic Vascular Diseases (VASCERN) - Project ID: 769036 . Publisher Copyright: © 2022 The Author(s)
PY - 2022/10/1
Y1 - 2022/10/1
N2 - 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.
AB - 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.
KW - ISSVA classification
KW - Ontology engineering
KW - Vascular anomalies
KW - Vascular malformations
KW - Vascular tumors
UR - http://www.scopus.com/inward/record.url?scp=85132702758&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.websem.2022.100731
DO - https://doi.org/10.1016/j.websem.2022.100731
M3 - Article
SN - 1570-8268
VL - 74
JO - Journal of Web Semantics
JF - Journal of Web Semantics
M1 - 100731
ER -