The International Society for the Study of Vascular Anomalies (ISSVA) is a multidisciplinary international society of physicians, scientists, and health care providers united by an interest in vascular anomalies. The Society aims to promote the highest standards of care for patients with vascular anomalies by advancing clinical and scientific knowledge concerning causes, diagnosis and treatment, and by education of physicians, health care providers, patients and the community. The Society encourages the free flow of information between its members and interested groups, through workshop meetings and teaching programs, and by the dissemination of a classification scheme and pertinent scientific data. The updated classification was approved at the May, 2018 General Assembly in Amsterdam, the Netherlands and can be found at https://www.issva.org/classification. What is the ISSVA Ontology? The ISSVA ontology has been created to represent a sharable semantic data model of the ISSVA classification. This ontological representation of the ISSVA classification is machine-readable and facilitates interoperability between systems that capture data about vascular anomalies. It is structured hierarchically and contains all concepts of the ISSVA classification and the relationships between them. The ontology is available in the Web Ontology Language (OWL) format, and can be browsed and downloaded online: https://bioportal.bioontology.org/ontologies/ISSVA How to Use the ISSVA Ontology? The ISSVA ontology does not substitute the ISSVA classification, instead, it should be used as an additional component to facilitate interoperability. Every concept in the ISSVA ontology has a unique code that should be attached to the corresponding data element. In the context of databases, the ISSVA ontology codes could be added as an extra column to the existing data. Mappings to Other Ontologies? The ISSVA ontology contains machine-readable mappings to equivalent concepts in other ontologies, namely: the Orphanet Rare Disease Ontology (ORDO), SNOMED Clinical Terms (SNOMED CT), National Cancer Institute thesaurus (NCIT), and the Human Phenotype Ontology (HPO). This means that data annotated with codes from the ISSVA ontology are interoperable with data annotated with the aforementioned ontologies, without any extra effort, as long as there exists a mapping between the concepts. Issue Reporting Please contact ISSVA at info@issva.org in case you have any issues and/or feature requests for the ISSVA ontology. The ontology can then be updated accordingly. OWL ISSVA Ontology of Vascular Anomalies ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at "issva.org/classification" Accessed [date] 1.1.3 https://creativecommons.org/licenses/by/4.0/legalcode ISSVA Ontology of Vascular Anomalies 1.1.3 ISSVA Ontology of Vascular Anomalies ISSVA Ontology of Vascular Anomalies sio:describes gene-disease association sio:gene-disease-association affects vessel type ISSVA_001 Acquired elastotic hemangioma ISSVA_002 Acral arteriovenous "tumour" ISSVA_003 Anastomosing hemangioma ISSVA_004 Anomaly of communication ISSVA_005 Anomaly of course ISSVA_006 Anomaly of diameter ISSVA_007 Anomaly of length ISSVA_008 Anomaly of number ISSVA_009 Anomaly of origin ISSVA_010 Anomaly of persistence of embryonal vessel ISSVA_011 Anomaly of persistence ISSVA_012 Anomaly of valves ISSVA_013 Arteriovenous fistula in capillary malformation-arteriovenous malformation Arteriovenous fistula in CM-AVM ISSVA_014 Arteriovenous fistula in hereditary hemorrhagic telangiectasia Arteriovenous fistula in HHT ISSVA_015 Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 1 Arteriovenous fistula in HHT1 ISSVA_016 Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 2 Arteriovenous fistula in HHT2 ISSVA_017 Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 3 Arteriovenous fistula in HHT3 ISSVA_018 Arteriovenous fistula in juvenile polyposis associated with hereditary hemorrhagic telangiectasia Arteriovenous fistula in JPHT ISSVA_019 Congenital. High-flow lesions. Arteriovenous fistula AVF Other AVF Other arteriovenous fistula ISSVA_020 Arteriovenous malformation in capillary malformation-arteriovenous malformation Arteriovenous malformation in CM-AVM ISSVA_021 Arteriovenous malformation in hereditary hemorrhagic telangiectasia Arteriovenous malformation in HHT ISSVA_022 Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 1 Arteriovenous malformation in HHT1 ISSVA_023 Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 2 Arteriovenous malformation in HHT2 ISSVA_024 Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 3 Arteriovenous malformation in HHT3 ISSVA_025 Arteriovenous malformation in juvenile polyposis associated with hereditary hemorrhagic telangiectasia Arteriovenous malformation in JPHT ISSVA_026 high-flow lesions Arteriovenous malformation AVM Other AVM Other arteriovenous malformation ISSVA_027 Bacillary angiomatosis ISSVA_028 Associated with AVM + VM +macrocephaly, lipomatous overgrowth Bannayan-Riley-Ruvalcaba syndrome ISSVA_029 reactive proliferative vascular lesions are listed with benign tumors Benign vascular tumor Other benign vascular tumor ISSVA_030 Blue rubber bleb nevus (Bean) syndrome venous malformation ISSVA_031 Capillary malformation of Capillary malformation-arteriovenous malformation CM of CM-AVM ISSVA_032 Capillary malformation of megalencephaly-capillary malformation-polymicrogyria CM of MCAP ISSVA_033 Capillary malformation of microcephaly-capillary malformation CM of MIC-CAP ISSVA_034 Capillary malformation with bone and/or soft tissues overgrowth CM with bone and/or soft tissues overgrowth ISSVA_035 Capillary malformation with central nervous system and/or ocular anomalies CM with CNS and/or ocular anomalies Sturge-Weber syndrome ISSVA_036 Capillary malformation CM Other CM Other capillary malformation ISSVA_037 Capillary vessel ISSVA_038 Capillary-arteriovenous malformation CAVM ISSVA_039 Capillary-lymphatic malformation CLM ISSVA_040 Capillary-lymphatic-arteriovenous malformation CLAVM ISSVA_041 Capillary-lymphatic-venous malformation CLVM ISSVA_042 Capillary-lymphatic-venous-arteriovenous malformation CLVAVM ISSVA_043 Capillary-venous malformation CVM ISSVA_044 Capillary-venous-arteriovenous malformation CVAVM ISSVA_045 Cerebral cavernous malformation CCM ISSVA_046 Cerebral cavernous malformation, type 1 CCM1 ISSVA_047 Cerebral cavernous malformation, type 2 CCM2 ISSVA_048 Cerebral cavernous malformation, type 3 CCM3 ISSVA_049 Channel type lymphatic malformation Channel type LM ISSVA_050 Associated with lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth. CLAPO syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). CLAPO syndrome ISSVA_051 Associated with LM + VM + CM +/- AVM + lipomatous overgrowth. CLOVES syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS) CLOVES syndrome ISSVA_052 defined as two or more vascular malformations found in one lesion Combined vascular malformation ISSVA_053 When associated with overgrowth, some of these lesions belong to the PIK3CA-related overgrowth spectrum. Some of these lesions may be associated with thrombocytopenia and/or consumptive coagulopathy. Common (cystic) lymphatic malformation Common (cystic) LM ISSVA_054 Common venous malformation ISSVA_055 Composite hemangioendothelioma ISSVA_056 Congenital hemangioma CH ISSVA_057 Cutaneous and/or mucosal capillary malformation Cutaneous and/or mucosal CM “Port-wine” stain ISSVA_058 Cutaneous epithelioid angiomatous nodule ISSVA_059 Cutis marmorata telangiectatica congenita CMTC ISSVA_060 Diffuse capillary malformation with overgrowth DCMO Diffuse CM with overgrowth ISSVA_061 Eccrine angiomatous hamartoma ISSVA_062 Ectasia / aneurysm ISSVA_063 Epithelioid hemangioendothelioma ISSVA_064 Epithelioid hemangioma ISSVA_065 Familial intraosseous vascular malformation VMOS ISSVA_066 Familial venous malformation cutaneo-mucosal VMCM ISSVA_067 Fibro adipose vascular anomaly FAVA ISSVA_068 Generalized lymphatic anomaly GLA ISSVA_069 Glomeruloid hemangioma ISSVA_070 Glomuvenous malformation GVM ISSVA_071 Hemangioendothelioma not otherwise specified ISSVA_072 Hereditary hemorrhagic telangiectasia HHT ISSVA_073 Hereditary hemorrhagic telangiectasia, type 1 HHT1 ISSVA_074 Hereditary hemorrhagic telangiectasia, type 2 HHT2 ISSVA_075 Hereditary hemorrhagic telangiectasia, type 3 HHT3 ISSVA_076 Hobnail hemangioma ISSVA_077 Hemangioma of infancy Infantile hemangioma Infantile hemangioma ISSVA_078 Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM. Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy. Intramuscular hemangioma ISSVA_079 Intravascular papillary endothelial hyperplasia ISSVA_080 Juvenile polyposis associated with hereditary hemorrhagic telangiectasia JPHT ISSVA_081 Kaposi sarcoma ISSVA_082 many experts believe that tufted angioma and kaposiform hemangioendothelioma are part of a spectrum rather than distinct entities some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details Kaposiform hemangioendothelioma ISSVA_083 Kaposiform lymphangiomatosis KLA ISSVA_084 Associated with CM + VM +/- LM + limb overgrowth. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Klippel-Trenaunay syndrome ISSVA_085 Limb capillary malformation + congenital non-progressive limb overgrowth ISSVA_086 Littoral cell hemangioma of the spleen ISSVA_087 Locally aggressive or borderline vascular tumor Other locally aggressive or borderline vascular tumor ISSVA_088 Lymphatic malformation in Gorham-Stout disease LM in Gorham-Stout disease ISSVA_089 Lymphatic malformation LM ISSVA_090 Lymphatic vessel ISSVA_091 Lymphatic-venous malformation LVM ISSVA_092 Lymphedema-choanal atresia ISSVA_093 MCAP belongs to the PIK3CA-related overgrowth spectrum (PROS) Macrocephaly-capillary malformation M-CM / MCAP ISSVA_094 Macrocystic lymphatic malformation Mixed cystic LM ISSVA_095 Macrocystic lymphatic malformation Microcystic LM ISSVA_096 Macrocystic lymphatic malformation Macrocystic LM ISSVA_097 Associated with VM +/- spindle-cell hemangioma + enchondroma Maffucci syndrome ISSVA_098 Malignant vascular tumor Other malignant vascular tumor ISSVA_099 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome ISSVA_100 Microcephaly-capillary malformation MICCAP ISSVA_101 Microvenular hemangioma ISSVA_102 Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT) ISSVA_103 salmon patch, angel kiss, stork bite Nevus simplex ISSVA_104 Non-involuting congenital hemangioma NICH ISSVA_105 Nonne-Milroy syndrome ISSVA_106 Nonsyndromic capillary malformation Nonsyndromic CM ISSVA_115 Papillary hemangioma ISSVA_116 Papillary intralymphatic angioendothelioma Dabska tumor PILA ISSVA_117 Associated with CM + AVF + limb overgrowth Parkes Weber syndrome ISSVA_118 some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy Partially involuting congenital hemangioma PICH ISSVA_119 Polymorphous hemangioendothelioma ISSVA_120 Primary generalized lymphatic anomaly Hennekam lymphangiectasia-lymphedema syndrome ISSVA_121 Primary hereditary lymphedema ISSVA_122 Primary lymphedema with myelodysplasia ISSVA_123 Primary lymphedema ISSVA_124 Associated with CM, VM and/or LM + asymmetrical somatic overgrowth. Proteus syndrome ISSVA_125 Provisionally unclassified vascular anomaly ISSVA_126 Pseudomyogenic hemangioendothelioma ISSVA_127 PTEN (type) hamartoma of soft tissue / "Angiomatosis" of soft tissue PHOST ISSVA_128 Pyogenic granuloma Lobular capillary hemangioma ISSVA_129 Rapidly involuting congenital hemangioma RICH ISSVA_130 Reactive angioendotheliomatosis ISSVA_131 The tumor nature of some of these lesions is not certain Reactive proliferative vascular lesions are listed with benign tumors Related lesion ISSVA_132 Reticulate capillary malformation Reticulate CM ISSVA_133 Retiform hemangioendothelioma ISSVA_134 Associated with limb VM + bone undergrowth Servelle-Martorell syndrome ISSVA_135 Simple vascular malformation ISSVA_136 Sinusoidal hemangioma ISSVA_137 Spindle-cell hemangioma ISSVA_138 Sporadic arteriovenous fistula ISSVA_139 Sporadic arteriovenous malformation ISSVA_140 Associated with facial + leptomeningeal CM + eye anomalies +/- bone and/or soft tissue overgrowth Sturge-Weber syndrome ISSVA_141 TEK (TIE2) http://www.orpha.net/ORDO/Orphanet_120020 https://www.alliancegenome.org/gene/HGNC:11724 ISSVA_142 many experts believe that tufted angioma and kaposiform hemangioendothelioma are part of a spectrum rather than distinct entities some lesions may be associated with thrombocyctopenia and/or consumptive coagulopathy Tufted angioma ISSVA_143 Vascular anomaly of major named vessel Channel type vascular anomaly of major named vessel Truncal vascular anomaly of major named vessel ISSVA_144 Vascular anomaly ISSVA_145 Vascular malformation associated with other anomalies ISSVA_146 Vascular malformation ISSVA_147 Vascular tumor ISSVA_148 some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy Venous malformation Other venous malformation ISSVA_149 (formerly verrucous hemangioma) Verrucous venous malformation ISSVA_150 so called acquired progressive "lymphangioma" “Acquired” progressive lymphatic anomaly ISSVA_151 ACVRL1 https://www.alliancegenome.org/gene/HGNC:175 ISSVA_152 AKT1 https://www.alliancegenome.org/gene/HGNC:391 ISSVA_153 Angiokeratoma ISSVA_154 Angiosarcoma ISSVA_155 Aplasia ISSVA_156 Artery ISSVA_157 BRAF https://www.alliancegenome.org/gene/HGNC:1097 ISSVA_158 CAMTA1 https://www.alliancegenome.org/gene/HGNC:18806 ISSVA_159 CCBE1 https://www.alliancegenome.org/gene/HGNC:29426 ISSVA_160 ELMO2 https://www.alliancegenome.org/gene/HGNC:17233 ISSVA_161 ENG https://www.alliancegenome.org/gene/HGNC:3349 ISSVA_162 EPHB4 https://www.alliancegenome.org/gene/HGNC:3395 ISSVA_163 FLT4 https://www.alliancegenome.org/gene/HGNC:3767 ISSVA_164 FOS https://www.alliancegenome.org/gene/HGNC:3796 ISSVA_165 FOSB https://www.alliancegenome.org/gene/HGNC:3797 ISSVA_166 FOXC2 https://www.alliancegenome.org/gene/HGNC:3801 ISSVA_167 GATA2 https://www.alliancegenome.org/gene/HGNC:4171 ISSVA_168 Gene ISSVA_169 GJC2 https://www.alliancegenome.org/gene/HGNC:17494 ISSVA_170 Glomulin https://www.alliancegenome.org/gene/HGNC:14373 ISSVA_171 GNA11 https://www.alliancegenome.org/gene/HGNC:4379 ISSVA_172 GNA14 https://www.alliancegenome.org/gene/HGNC:4382 ISSVA_173 GNAQ https://www.alliancegenome.org/gene/HGNC:4390 ISSVA_174 Hypoplasia ISSVA_175 Hypotrichosis-lymphedema-telangiectasia ISSVA_176 IDH1 https://www.alliancegenome.org/gene/HGNC:5382 ISSVA_177 IDH2 https://www.alliancegenome.org/gene/HGNC:5383 ISSVA_178 KIF11 https://www.alliancegenome.org/gene/HGNC:6388 ISSVA_179 KRIT1 https://www.alliancegenome.org/gene/HGNC:1573 ISSVA_180 Lymphedema-distichiasis ISSVA_181 Malcavernin https://www.alliancegenome.org/gene/HGNC:21708 ISSVA_182 MAP2K1 https://www.alliancegenome.org/gene/HGNC:6840 ISSVA_183 MAP3K3 https://www.alliancegenome.org/gene/HGNC:6855 ISSVA_184 MYC https://www.alliancegenome.org/gene/HGNC:7553 ISSVA_185 NPM1 http://www.orpha.net/ORDO/Orphanet_159793 https://www.alliancegenome.org/gene/HGNC:7910 ISSVA_186 PDCD10 https://www.alliancegenome.org/gene/HGNC:8761 ISSVA_187 PIK3CA https://www.alliancegenome.org/gene/HGNC:8975 ISSVA_188 PTEN https://www.alliancegenome.org/gene/HGNC:9588 ISSVA_189 PTPN14 https://www.alliancegenome.org/gene/HGNC:9647 ISSVA_190 RAS http://www.orpha.net/ORDO/Orphanet_122499 http://www.orpha.net/ORDO/Orphanet_122879 http://www.orpha.net/ORDO/Orphanet_221346 https://www.alliancegenome.org/gene/HGNC:5173 https://www.alliancegenome.org/gene/HGNC:6407 https://www.alliancegenome.org/gene/HGNC:7989 ISSVA_191 RASA1 https://www.alliancegenome.org/gene/HGNC:9871 ISSVA_192 SMAD4 https://www.alliancegenome.org/gene/HGNC:6770 ISSVA_193 SOX18 https://www.alliancegenome.org/gene/HGNC:11194 ISSVA_194 STAMBP https://www.alliancegenome.org/gene/HGNC:16950 ISSVA_195 Stenosis ISSVA_196 The CM nature of some subtypes of telangiectasia is debated. Some telangiectasia may be reclassified in other sections in the future. Telangiectasia Other telangiectasia ISSVA_197 TFE3 https://www.alliancegenome.org/gene/HGNC:11752 ISSVA_198 VEGFC https://www.alliancegenome.org/gene/HGNC:12682 ISSVA_199 VEGFR3 https://www.alliancegenome.org/gene/HGNC:3767 ISSVA_200 Vein ISSVA_201 Vessel owl:Thing Bruna dos Santos Vieira Leo Schultze Kool Ronald Cornet Philip van Damme Martijn Kersloot 1.1.3 The International Society for the Study of Vascular Anomalies (ISSVA) is a multidisciplinary international society of physicians, scientists, and health care providers united by an interest in vascular anomalies. The Society aims to promote the highest standards of care for patients with vascular anomalies by advancing clinical and scientific knowledge concerning causes, diagnosis and treatment, and by education of physicians, health care providers, patients and the community. The Society encourages the free flow of information between its members and interested groups, through workshop meetings and teaching programs, and by the dissemination of a classification scheme and pertinent scientific data. The updated classification was approved at the May, 2018 General Assembly in Amsterdam, the Netherlands and can be found at https://www.issva.org/classification. What is the ISSVA Ontology? The ISSVA ontology has been created to represent a sharable semantic data model of the ISSVA classification. This ontological representation of the ISSVA classification is machine-readable and facilitates interoperability between systems that capture data about vascular anomalies. It is structured hierarchically and contains all concepts of the ISSVA classification and the relationships between them. The ontology is available in the Web Ontology Language (OWL) format, and can be browsed and downloaded online: https://bioportal.bioontology.org/ontologies/ISSVA How to Use the ISSVA Ontology? The ISSVA ontology does not substitute the ISSVA classification, instead, it should be used as an additional component to facilitate interoperability. Every concept in the ISSVA ontology has a unique code that should be attached to the corresponding data element. In the context of databases, the ISSVA ontology codes could be added as an extra column to the existing data. Mappings to Other Ontologies? The ISSVA ontology contains machine-readable mappings to equivalent concepts in other ontologies, namely: the Orphanet Rare Disease Ontology (ORDO), SNOMED Clinical Terms (SNOMED CT), National Cancer Institute thesaurus (NCIT), and the Human Phenotype Ontology (HPO). This means that data annotated with codes from the ISSVA ontology are interoperable with data annotated with the aforementioned ontologies, without any extra effort, as long as there exists a mapping between the concepts. Issue Reporting Please contact ISSVA at info@issva.org in case you have any issues and/or feature requests for the ISSVA ontology. The ontology can then be updated accordingly. OWL ISSVA Ontology of Vascular Anomalies ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at "issva.org/classification" Accessed [date] 1.1.3 https://creativecommons.org/licenses/by/4.0/legalcode ISSVA Ontology of Vascular Anomalies 1.1.3 ISSVA Ontology of Vascular Anomalies ISSVA Ontology of Vascular Anomalies