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]
affects vessel type
Acquired elastotic hemangioma
Acral arteriovenous "tumour"
Anastomosing hemangioma
Anomaly of communication
Anomaly of course
Anomaly of diameter
Anomaly of length
Anomaly of number
Anomaly of origin
Anomaly of persistence of embryonal vessel
Anomaly of persistence
Anomaly of valves
Arteriovenous fistula in capillary malformation-arteriovenous malformation
Arteriovenous fistula in CM-AVM
Arteriovenous fistula in hereditary hemorrhagic telangiectasia
Arteriovenous fistula in HHT
Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 1
Arteriovenous fistula in HHT1
Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 2
Arteriovenous fistula in HHT2
Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 3
Arteriovenous fistula in HHT3
Arteriovenous fistula in juvenile polyposis associated with hereditary hemorrhagic telangiectasia
Arteriovenous fistula in JPHT
Congenital. High-flow lesions.
Arteriovenous fistula
AVF
Other AVF
Other arteriovenous fistula
Arteriovenous malformation in capillary malformation-arteriovenous malformation
Arteriovenous malformation in CM-AVM
Arteriovenous malformation in hereditary hemorrhagic telangiectasia
Arteriovenous malformation in HHT
Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 1
Arteriovenous malformation in HHT1
Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 2
Arteriovenous malformation in HHT2
Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 3
Arteriovenous malformation in HHT3
Arteriovenous malformation in juvenile polyposis associated with hereditary hemorrhagic telangiectasia
Arteriovenous malformation in JPHT
high-flow lesions
Arteriovenous malformation
AVM
Other AVM
Other arteriovenous malformation
Bacillary angiomatosis
Associated with AVM + VM +macrocephaly, lipomatous overgrowth
Bannayan-Riley-Ruvalcaba syndrome
reactive proliferative vascular lesions are listed with benign tumors
Benign vascular tumor
Other benign vascular tumor
Blue rubber bleb nevus (Bean) syndrome venous malformation
Capillary malformation of Capillary malformation-arteriovenous malformation
CM of CM-AVM
Capillary malformation of megalencephaly-capillary malformation-polymicrogyria
CM of MCAP
Capillary malformation of microcephaly-capillary malformation
CM of MIC-CAP
Capillary malformation with bone and/or soft tissues overgrowth
CM with bone and/or soft tissues overgrowth
Capillary malformation with central nervous system and/or ocular anomalies
CM with CNS and/or ocular anomalies
Sturge-Weber syndrome
Capillary malformation
Other CM
Other capillary malformation
Capillary vessel
Capillary-arteriovenous malformation
CAVM
Capillary-lymphatic malformation
CLM
Capillary-lymphatic-arteriovenous malformation
CLAVM
Capillary-lymphatic-venous malformation
CLVM
Capillary-lymphatic-venous-arteriovenous malformation
CLVAVM
Capillary-venous malformation
CVM
Capillary-venous-arteriovenous malformation
CVAVM
Cerebral cavernous malformation
CCM
Cerebral cavernous malformation, type 1
CCM1
Cerebral cavernous malformation, type 2
CCM2
Cerebral cavernous malformation, type 3
CCM3
Channel type lymphatic malformation
Channel type LM
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
Associated with LM + VM + CM +/- AVM + lipomatous overgrowth. CLOVES syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS)
CLOVES syndrome
defined as two or more vascular malformations found in one lesion
Combined vascular malformation
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
Common venous malformation
Composite hemangioendothelioma
Congenital hemangioma
Cutaneous and/or mucosal capillary malformation
Cutaneous and/or mucosal CM
“Port-wine” stain
Cutaneous epithelioid angiomatous nodule
Cutis marmorata telangiectatica congenita
CMTC
Diffuse capillary malformation with overgrowth
DCMO
Diffuse CM with overgrowth
Eccrine angiomatous hamartoma
Ectasia / aneurysm
Epithelioid hemangioendothelioma
Epithelioid hemangioma
Familial intraosseous vascular malformation
VMOS
Familial venous malformation cutaneo-mucosal
VMCM
Fibro adipose vascular anomaly
FAVA
Generalized lymphatic anomaly
GLA
Glomeruloid hemangioma
Glomuvenous malformation
GVM
Hemangioendothelioma not otherwise specified
Hereditary hemorrhagic telangiectasia
HHT
Hereditary hemorrhagic telangiectasia, type 1
HHT1
Hereditary hemorrhagic telangiectasia, type 2
HHT2
Hereditary hemorrhagic telangiectasia, type 3
HHT3
Hobnail hemangioma
Hemangioma of infancy
Infantile hemangioma
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
Intravascular papillary endothelial hyperplasia
Juvenile polyposis associated with hereditary hemorrhagic telangiectasia
JPHT
Kaposi sarcoma
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
Kaposiform lymphangiomatosis
KLA
Associated with CM + VM +/- LM + limb overgrowth. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
Klippel-Trenaunay syndrome
Limb capillary malformation + congenital non-progressive limb overgrowth
Littoral cell hemangioma of the spleen
Locally aggressive or borderline vascular tumor
Other locally aggressive or borderline vascular tumor
Lymphatic malformation in Gorham-Stout disease
LM in Gorham-Stout disease
Lymphatic malformation
Lymphatic vessel
Lymphatic-venous malformation
LVM
Lymphedema-choanal atresia
MCAP belongs to the PIK3CA-related overgrowth spectrum (PROS)
Macrocephaly-capillary malformation
M-CM / MCAP
Macrocystic lymphatic malformation
Mixed cystic LM
Microcystic LM
Macrocystic LM
Associated with VM +/- spindle-cell hemangioma + enchondroma
Maffucci syndrome
Malignant vascular tumor
Other malignant vascular tumor
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Microcephaly-capillary malformation
MICCAP
Microvenular hemangioma
Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)
salmon patch, angel kiss, stork bite
Nevus simplex
Non-involuting congenital hemangioma
NICH
Nonne-Milroy syndrome
Nonsyndromic capillary malformation
Nonsyndromic CM
Papillary hemangioma
Papillary intralymphatic angioendothelioma
Dabska tumor
PILA
Associated with CM + AVF + limb overgrowth
Parkes Weber syndrome
some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy
Partially involuting congenital hemangioma
PICH
Polymorphous hemangioendothelioma
Primary generalized lymphatic anomaly
Hennekam lymphangiectasia-lymphedema syndrome
Primary hereditary lymphedema
Primary lymphedema with myelodysplasia
Primary lymphedema
Associated with CM, VM and/or LM + asymmetrical somatic overgrowth.
Proteus syndrome
Provisionally unclassified vascular anomaly
Pseudomyogenic hemangioendothelioma
PTEN (type) hamartoma of soft tissue / "Angiomatosis" of soft tissue
PHOST
Pyogenic granuloma
Lobular capillary hemangioma
Rapidly involuting congenital hemangioma
RICH
Reactive angioendotheliomatosis
The tumor nature of some of these lesions is not certain Reactive proliferative vascular lesions are listed with benign tumors
Related lesion
Reticulate capillary malformation
Reticulate CM
Retiform hemangioendothelioma
Associated with limb VM + bone undergrowth
Servelle-Martorell syndrome
Simple vascular malformation
Sinusoidal hemangioma
Spindle-cell hemangioma
Sporadic arteriovenous fistula
Sporadic arteriovenous malformation
Associated with facial + leptomeningeal CM + eye anomalies +/- bone and/or soft tissue overgrowth
TEK (TIE2)
some lesions may be associated with thrombocyctopenia and/or consumptive coagulopathy
Tufted angioma
Vascular anomaly of major named vessel
Channel type vascular anomaly of major named vessel
Truncal vascular anomaly of major named vessel
Vascular anomaly
Vascular malformation associated with other anomalies
Vascular malformation
Vascular tumor
Venous malformation
Other venous malformation
(formerly verrucous hemangioma)
Verrucous venous malformation
so called acquired progressive "lymphangioma"
“Acquired” progressive lymphatic anomaly
ACVRL1
AKT1
Angiokeratoma
Angiosarcoma
Aplasia
Artery
BRAF
CAMTA1
CCBE1
ELMO2
ENG
EPHB4
FLT4
FOS
FOSB
FOXC2
GATA2
Gene
GJC2
Glomulin
GNA11
GNA14
GNAQ
Hypoplasia
Hypotrichosis-lymphedema-telangiectasia
IDH1
IDH2
KIF11
KRIT1
Lymphedema-distichiasis
Malcavernin
MAP2K1
MAP3K3
MYC
NPM1
PDCD10
PIK3CA
PTEN
PTPN14
RAS
RASA1
SMAD4
SOX18
STAMBP
Stenosis
The CM nature of some subtypes of telangiectasia is debated. Some telangiectasia may be reclassified in other sections in the future.
Telangiectasia
Other telangiectasia
TFE3
VEGFC
VEGFR3
Vein
Vessel
Bruna dos Santos Vieira
Leo Schultze Kool
Ronald Cornet
Philip van Damme
Martijn Kersloot