ISSVA Ontology of Vascular Anomalies
type: Ontology
creator: Bruna dos Santos Vieira
creator: Leo Schultze Kool
creator: Ronald Cornet
creator: Philip van Damme
creator: Martijn Kersloot
description: 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, na…
format: OWL
bibliographic citation: ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at "issva.org/classification" Accessed [date]
has version: 1.1.3
license: https://creativecommons.org/licenses/by/4.0/legalcode
version info: 1.1.3
sio:describes: ISSVA-Classification-2018.pdf

sio:describes
type: AnnotationProperty

gene-disease association
type: AnnotationProperty
preferred label: sio:gene-disease-association

affects vessel type
type: ObjectProperty
domain: Vascular anomaly of major named vessel
range: Vessel

Acquired elastotic hemangioma
type: Class
subclass of: Benign vascular tumor

Acral arteriovenous "tumour"
type: Class
subclass of: Provisionally unclassified vascular anomaly

Anastomosing hemangioma
type: Class
subclass of: Benign vascular tumor

Anomaly of communication
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of course
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of diameter
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of length
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of number
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of origin
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of persistence of embryonal vessel
type: Class
subclass of: Anomaly of persistence

Anomaly of persistence
type: Class
subclass of: Vascular anomaly of major named vessel

Anomaly of valves
type: Class
subclass of: Vascular anomaly of major named vessel

Arteriovenous fistula in capillary malformation-arteriovenous malformation
type: Class
subclass of: Arteriovenous fistula
alternative label: Arteriovenous fistula in CM-AVM

Arteriovenous fistula in hereditary hemorrhagic telangiectasia
type: Class
subclass of: Arteriovenous fistula
alternative label: Arteriovenous fistula in HHT

Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 1
type: Class
subclass of: Arteriovenous fistula in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous fistula in HHT1

Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 2
type: Class
subclass of: Arteriovenous fistula in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous fistula in HHT2

Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 3
type: Class
subclass of: Arteriovenous fistula in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous fistula in HHT3

Arteriovenous fistula in juvenile polyposis associated with hereditary hemorrhagic telangiectasia
type: Class
subclass of: Arteriovenous fistula in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous fistula in JPHT

Arteriovenous fistula
type: Class
subclass of: Anomaly of communication
subclass of: Simple vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Congenital. High-flow lesions.
alternative label: AVF
alternative label: Other AVF
alternative label: Other arteriovenous fistula

Arteriovenous malformation in capillary malformation-arteriovenous malformation
type: Class
subclass of: Arteriovenous malformation
alternative label: Arteriovenous malformation in CM-AVM

Arteriovenous malformation in hereditary hemorrhagic telangiectasia
type: Class
subclass of: Arteriovenous malformation
alternative label: Arteriovenous malformation in HHT

Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 1
type: Class
subclass of: Arteriovenous malformation in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous malformation in HHT1

Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 2
type: Class
subclass of: Arteriovenous malformation in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous malformation in HHT2

Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 3
type: Class
subclass of: Arteriovenous malformation in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous malformation in HHT3

Arteriovenous malformation in juvenile polyposis associated with hereditary hemorrhagic telangiectasia
type: Class
subclass of: Arteriovenous malformation in hereditary hemorrhagic telangiectasia
alternative label: Arteriovenous malformation in JPHT

Arteriovenous malformation
type: Class
subclass of: Simple vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: high-flow lesions
alternative label: AVM
alternative label: Other AVM
alternative label: Other arteriovenous malformation

Bacillary angiomatosis
type: Class
subclass of: Related lesion

Bannayan-Riley-Ruvalcaba syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Associated with AVM + VM +macrocephaly, lipomatous overgrowth

Benign vascular tumor
type: Class
subclass of: Vascular tumor
comment: reactive proliferative vascular lesions are listed with benign tumors
alternative label: Other benign vascular tumor

Blue rubber bleb nevus (Bean) syndrome venous malformation
type: Class
subclass of: Venous malformation

Capillary malformation of Capillary malformation-arteriovenous malformation
type: Class
subclass of: Capillary malformation
alternative label: CM of CM-AVM

Capillary malformation of megalencephaly-capillary malformation-polymicrogyria
type: Class
subclass of: Reticulate capillary malformation
alternative label: CM of MCAP

Capillary malformation of microcephaly-capillary malformation
type: Class
subclass of: Reticulate capillary malformation
alternative label: CM of MIC-CAP

Capillary malformation with bone and/or soft tissues overgrowth
type: Class
subclass of: Cutaneous and/or mucosal capillary malformation
alternative label: CM with bone and/or soft tissues overgrowth

Capillary malformation with central nervous system and/or ocular anomalies
type: Class
subclass of: Cutaneous and/or mucosal capillary malformation
alternative label: CM with CNS and/or ocular anomalies
alternative label: Sturge-Weber syndrome

Capillary malformation
type: Class
subclass of: Simple vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
alternative label: CM
alternative label: Other CM
alternative label: Other capillary malformation

Capillary vessel
type: Class
subclass of: Vessel

Capillary-arteriovenous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: CAVM

Capillary-lymphatic malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
alternative label: CLM

Capillary-lymphatic-arteriovenous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: CLAVM

Capillary-lymphatic-venous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: CLVM

Capillary-lymphatic-venous-arteriovenous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: CLVAVM

Capillary-venous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: CVM

Capillary-venous-arteriovenous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: CVAVM

Cerebral cavernous malformation
type: Class
subclass of: Venous malformation
alternative label: CCM

Cerebral cavernous malformation, type 1
type: Class
subclass of: Cerebral cavernous malformation
alternative label: CCM1

Cerebral cavernous malformation, type 2
type: Class
subclass of: Cerebral cavernous malformation
alternative label: CCM2

Cerebral cavernous malformation, type 3
type: Class
subclass of: Cerebral cavernous malformation
alternative label: CCM3

Channel type lymphatic malformation
type: Class
subclass of: Lymphatic malformation
alternative label: Channel type LM

CLAPO syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
comment: Associated with lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth. CLAPO syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

CLOVES syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Associated with LM + VM + CM +/- AVM + lipomatous overgrowth. CLOVES syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS)

Combined vascular malformation
type: Class
subclass of: Vascular malformation
comment: defined as two or more vascular malformations found in one lesion

Common (cystic) lymphatic malformation
type: Class
subclass of: Lymphatic malformation
comment: 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.
alternative label: Common (cystic) LM

Common venous malformation
type: Class
subclass of: Venous malformation

Composite hemangioendothelioma
type: Class
subclass of: Locally aggressive or borderline vascular tumor

Congenital hemangioma
type: Class
subclass of: Benign vascular tumor
disjoint with: GNA11
alternative label: CH

Cutaneous and/or mucosal capillary malformation
type: Class
subclass of: Capillary malformation
alternative label: Cutaneous and/or mucosal CM
alternative label: “Port-wine” stain

Cutaneous epithelioid angiomatous nodule
type: Class
subclass of: Benign vascular tumor

Cutis marmorata telangiectatica congenita
type: Class
subclass of: Capillary malformation
alternative label: CMTC

Diffuse capillary malformation with overgrowth
type: Class
subclass of: Cutaneous and/or mucosal capillary malformation
alternative label: DCMO
alternative label: Diffuse CM with overgrowth

Eccrine angiomatous hamartoma
type: Class
subclass of: Related lesion

Ectasia / aneurysm
type: Class
subclass of: Anomaly of diameter

Epithelioid hemangioendothelioma
type: Class
subclass of: Malignant vascular tumor

Epithelioid hemangioma
type: Class
subclass of: Benign vascular tumor

Familial intraosseous vascular malformation
type: Class
subclass of: Venous malformation
alternative label: VMOS

Familial venous malformation cutaneo-mucosal
type: Class
subclass of: Venous malformation
alternative label: VMCM

Fibro adipose vascular anomaly
type: Class
subclass of: Provisionally unclassified vascular anomaly
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
alternative label: FAVA

Generalized lymphatic anomaly
type: Class
subclass of: Lymphatic malformation
alternative label: GLA

Glomeruloid hemangioma
type: Class
subclass of: Benign vascular tumor

Glomuvenous malformation
type: Class
subclass of: Venous malformation
alternative label: GVM

Hemangioendothelioma not otherwise specified
type: Class
subclass of: Locally aggressive or borderline vascular tumor

Hereditary hemorrhagic telangiectasia
type: Class
subclass of: Telangiectasia
alternative label: HHT

Hereditary hemorrhagic telangiectasia, type 1
type: Class
subclass of: Hereditary hemorrhagic telangiectasia
alternative label: HHT1

Hereditary hemorrhagic telangiectasia, type 2
type: Class
subclass of: Hereditary hemorrhagic telangiectasia
alternative label: HHT2

Hereditary hemorrhagic telangiectasia, type 3
type: Class
subclass of: Hereditary hemorrhagic telangiectasia
alternative label: HHT3

Hobnail hemangioma
type: Class
subclass of: Benign vascular tumor

Hemangioma of infancy
type: Class
subclass of: Benign vascular tumor
label: Infantile hemangioma

Intramuscular hemangioma
type: Class
subclass of: Provisionally unclassified vascular anomaly
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM. Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.

Intravascular papillary endothelial hyperplasia
type: Class
subclass of: Benign vascular tumor

Juvenile polyposis associated with hereditary hemorrhagic telangiectasia
type: Class
subclass of: Hereditary hemorrhagic telangiectasia
alternative label: JPHT

Kaposi sarcoma
type: Class
subclass of: Locally aggressive or borderline vascular tumor

Kaposiform hemangioendothelioma
type: Class
subclass of: Locally aggressive or borderline vascular tumor
comment: many experts believe that tufted angioma and kaposiform hemangioendothelioma are part of a spectrum rather than distinct entities
comment: some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy see details

Kaposiform lymphangiomatosis
type: Class
subclass of: Generalized lymphatic anomaly
alternative label: KLA

Klippel-Trenaunay syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Associated with CM + VM +/- LM + limb overgrowth. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Limb capillary malformation + congenital non-progressive limb overgrowth
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel

Littoral cell hemangioma of the spleen
type: Class
subclass of: Benign vascular tumor

Locally aggressive or borderline vascular tumor
type: Class
subclass of: Vascular tumor
alternative label: Other locally aggressive or borderline vascular tumor

Lymphatic malformation in Gorham-Stout disease
type: Class
subclass of: Lymphatic malformation
alternative label: LM in Gorham-Stout disease

Lymphatic malformation
type: Class
subclass of: Simple vascular malformation
alternative label: LM

Lymphatic vessel
type: Class
subclass of: Vessel

Lymphatic-venous malformation
type: Class
subclass of: Combined vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
alternative label: LVM

Lymphedema-choanal atresia
type: Class
subclass of: Primary lymphedema

Macrocephaly-capillary malformation
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
comment: MCAP belongs to the PIK3CA-related overgrowth spectrum (PROS)
alternative label: M-CM / MCAP

Macrocystic lymphatic malformation
type: Class
subclass of: Common (cystic) lymphatic malformation
alternative label: Mixed cystic LM

Macrocystic lymphatic malformation
type: Class
subclass of: Common (cystic) lymphatic malformation
alternative label: Microcystic LM

Macrocystic lymphatic malformation
type: Class
subclass of: Common (cystic) lymphatic malformation
alternative label: Macrocystic LM

Maffucci syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Associated with VM +/- spindle-cell hemangioma + enchondroma

Malignant vascular tumor
type: Class
subclass of: Vascular tumor
alternative label: Other malignant vascular tumor

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
type: Class
subclass of: Primary lymphedema

Microcephaly-capillary malformation
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
alternative label: MICCAP

Microvenular hemangioma
type: Class
subclass of: Benign vascular tumor

Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)
type: Class
subclass of: Provisionally unclassified vascular anomaly
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel

Nevus simplex
type: Class
subclass of: Capillary malformation
comment: salmon patch, angel kiss, stork bite

Non-involuting congenital hemangioma
type: Class
subclass of: Congenital hemangioma
alternative label: NICH

Nonne-Milroy syndrome
type: Class
subclass of: Primary lymphedema

Nonsyndromic capillary malformation
type: Class
subclass of: Cutaneous and/or mucosal capillary malformation
alternative label: Nonsyndromic CM

Papillary hemangioma
type: Class
subclass of: Benign vascular tumor

Papillary intralymphatic angioendothelioma
type: Class
subclass of: Locally aggressive or borderline vascular tumor
see also: Dabska tumor
alternative label: PILA

Parkes Weber syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Artery
comment: Associated with CM + AVF + limb overgrowth

Partially involuting congenital hemangioma
type: Class
subclass of: Congenital hemangioma
comment: some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy
alternative label: PICH

Polymorphous hemangioendothelioma
type: Class
subclass of: Locally aggressive or borderline vascular tumor

Primary generalized lymphatic anomaly
type: Class
subclass of: Primary lymphedema
alternative label: Hennekam lymphangiectasia-lymphedema syndrome

Primary hereditary lymphedema
type: Class
subclass of: Primary lymphedema

Primary lymphedema with myelodysplasia
type: Class
subclass of: Primary lymphedema

Primary lymphedema
type: Class
subclass of: Simple vascular malformation

Proteus syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Associated with CM, VM and/or LM + asymmetrical somatic overgrowth.

Provisionally unclassified vascular anomaly
type: Class
subclass of: Vascular malformation

Pseudomyogenic hemangioendothelioma
type: Class
subclass of: Locally aggressive or borderline vascular tumor

PTEN (type) hamartoma of soft tissue / "Angiomatosis" of soft tissue
type: Class
subclass of: Provisionally unclassified vascular anomaly
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel
alternative label: PHOST

Pyogenic granuloma
type: Class
subclass of: Benign vascular tumor
alternative label: Lobular capillary hemangioma

Rapidly involuting congenital hemangioma
type: Class
subclass of: Congenital hemangioma
alternative label: RICH

Reactive angioendotheliomatosis
type: Class
subclass of: Related lesion

Related lesion
type: Class
subclass of: Benign vascular tumor
comment: The tumor nature of some of these lesions is not certain Reactive proliferative vascular lesions are listed with benign tumors

Reticulate capillary malformation
type: Class
subclass of: Capillary malformation
alternative label: Reticulate CM

Retiform hemangioendothelioma
type: Class
subclass of: Locally aggressive or borderline vascular tumor

Servelle-Martorell syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: Associated with limb VM + bone undergrowth

Simple vascular malformation
type: Class
subclass of: Vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Lymphatic vessel

Sinusoidal hemangioma
type: Class
subclass of: Provisionally unclassified vascular anomaly

Spindle-cell hemangioma
type: Class
subclass of: Benign vascular tumor

Sporadic arteriovenous fistula
type: Class
subclass of: Arteriovenous fistula

Sporadic arteriovenous malformation
type: Class
subclass of: Arteriovenous malformation

Sturge-Weber syndrome
type: Class
subclass of: Vascular malformation associated with other anomalies
subclass of: Restriction
  on property: affects vessel type
  some values from: Capillary vessel
comment: Associated with facial + leptomeningeal CM + eye anomalies +/- bone and/or soft tissue overgrowth

TEK (TIE2)
type: Class
subclass of: Gene
gene-disease association: Blue rubber bleb nevus (Bean) syndrome venous malformation
gene-disease association: Common venous malformation
gene-disease association: Familial venous malformation cutaneo-mucosal

Tufted angioma
type: Class
subclass of: Benign vascular tumor
comment: many experts believe that tufted angioma and kaposiform hemangioendothelioma are part of a spectrum rather than distinct entities
comment: some lesions may be associated with thrombocyctopenia and/or consumptive coagulopathy

Vascular anomaly of major named vessel
type: Class
subclass of: Vascular malformation
subclass of: Class
  union of: Restriction
    on property: affects vessel type
    some values from: Capillary vessel
  union of: Restriction
    on property: affects vessel type
    some values from: Artery
  union of: Restriction
    on property: affects vessel type
    some values from: Vein
alternative label: Channel type vascular anomaly of major named vessel
alternative label: Truncal vascular anomaly of major named vessel

Vascular anomaly
type: Class

Vascular malformation associated with other anomalies
type: Class
subclass of: Vascular malformation

Vascular malformation
type: Class
subclass of: Vascular anomaly

Vascular tumor
type: Class
subclass of: Vascular anomaly

Venous malformation
type: Class
subclass of: Simple vascular malformation
subclass of: Restriction
  on property: affects vessel type
  some values from: Vein
comment: some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy
alternative label: Other venous malformation

Verrucous venous malformation
type: Class
subclass of: Venous malformation
comment: (formerly verrucous hemangioma)

“Acquired” progressive lymphatic anomaly
type: Class
subclass of: Lymphatic malformation
comment: so called acquired progressive "lymphangioma"

ACVRL1
type: Class
subclass of: Gene
gene-disease association: Arteriovenous fistula in hereditary hemorrhagic telangiectasia
gene-disease association: Arteriovenous malformation in hereditary hemorrhagic telangiectasia
gene-disease association: Telangiectasia

AKT1
type: Class
subclass of: Gene
gene-disease association: Proteus syndrome

Angiokeratoma
type: Class
subclass of: Provisionally unclassified vascular anomaly

Angiosarcoma
type: Class
subclass of: Malignant vascular tumor

Aplasia
type: Class
subclass of: Anomaly of diameter

Artery
type: Class
subclass of: Vessel

BRAF
type: Class
subclass of: Gene
gene-disease association: Pyogenic granuloma

CAMTA1
type: Class
subclass of: Gene
gene-disease association: Epithelioid hemangioendothelioma

CCBE1
type: Class
subclass of: Gene
gene-disease association: Primary generalized lymphatic anomaly

ELMO2
type: Class
subclass of: Gene
gene-disease association: Familial intraosseous vascular malformation

ENG
type: Class
subclass of: Gene
gene-disease association: Arteriovenous fistula in hereditary hemorrhagic telangiectasia, type 1
gene-disease association: Arteriovenous malformation in hereditary hemorrhagic telangiectasia, type 1
gene-disease association: Hereditary hemorrhagic telangiectasia, type 1

EPHB4
type: Class
subclass of: Gene
gene-disease association: Arteriovenous fistula in capillary malformation-arteriovenous malformation
gene-disease association: Arteriovenous malformation in capillary malformation-arteriovenous malformation
gene-disease association: Capillary malformation of Capillary malformation-arteriovenous malformation

FLT4
type: Class
equivalent class: VEGFR3
subclass of: Gene
gene-disease association: Nonne-Milroy syndrome

FOS
type: Class
subclass of: Gene
gene-disease association: Epithelioid hemangioma

FOSB
type: Class
subclass of: Gene
gene-disease association: Pseudomyogenic hemangioendothelioma

FOXC2
type: Class
subclass of: Gene
gene-disease association: Lymphedema-distichiasis

GATA2
type: Class
subclass of: Gene
gene-disease association: Primary lymphedema with myelodysplasia

Gene
type: Class

GJC2
type: Class
subclass of: Gene
gene-disease association: Primary hereditary lymphedema

Glomulin
type: Class
subclass of: Gene
gene-disease association: Glomuvenous malformation

GNA11
type: Class
subclass of: Gene
gene-disease association: Diffuse CM with overgrowth (DCMO)
gene-disease association: Capillary malformation with bone and/or soft tissues overgrowth
gene-disease association: Congenital hemangioma

GNA14
type: Class
subclass of: Gene
gene-disease association: Kaposiform hemangioendothelioma
gene-disease association: Pyogenic granuloma
gene-disease association: Tufted angioma

GNAQ
type: Class
subclass of: Gene
gene-disease association: Congenital hemangioma
gene-disease association: Nonsyndromic capillary malformation
gene-disease association: Sturge-Weber syndrome

Hypoplasia
type: Class
subclass of: Anomaly of diameter

Hypotrichosis-lymphedema-telangiectasia
type: Class
subclass of: Primary lymphedema

IDH1
type: Class
subclass of: Gene
gene-disease association: Maffucci syndrome
gene-disease association: Spindle-cell hemangioma

IDH2
type: Class
subclass of: Gene
gene-disease association: Maffucci syndrome
gene-disease association: Spindle-cell hemangioma

KIF11
type: Class
subclass of: Gene
gene-disease association: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

KRIT1
type: Class
subclass of: Gene
gene-disease association: Cerebral cavernous malformation, type 1

Lymphedema-distichiasis
type: Class
subclass of: Primary lymphedema

Malcavernin
type: Class
subclass of: Gene
gene-disease association: Cerebral cavernous malformation, type 2

MAP2K1
type: Class
subclass of: Gene
gene-disease association: Sporadic arteriovenous fistula
gene-disease association: Sporadic arteriovenous malformation

MAP3K3
type: Class
subclass of: Gene
gene-disease association: Verrucous venous malformation

MYC
type: Class
subclass of: Gene
gene-disease association: Angiosarcoma

NPM1
type: Class
subclass of: Gene
gene-disease association: Maffucci syndrome

PDCD10
type: Class
subclass of: Gene
gene-disease association: Cerebral cavernous malformation, type 3

PIK3CA
type: Class
subclass of: Gene
gene-disease association: CLAPO syndrome
gene-disease association: CLOVES syndrome
gene-disease association: Common (cystic) lymphatic malformation
gene-disease association: Common venous malformation
gene-disease association: Fibro adipose vascular anomaly
gene-disease association: Klippel-Trenaunay syndrome
gene-disease association: Macrocephaly-capillary malformation

PTEN
type: Class
subclass of: Gene
gene-disease association: Bannayan-Riley-Ruvalcaba syndrome
gene-disease association: PTEN (type) hamartoma of soft tissue / "Angiomatosis" of soft tissue

PTPN14
type: Class
subclass of: Gene
gene-disease association: Lymphedema-choanal atresia

RAS
type: Class
subclass of: Gene
gene-disease association: Pyogenic granuloma

RASA1
type: Class
subclass of: Gene
gene-disease association: Arteriovenous fistula in capillary malformation-arteriovenous malformation
gene-disease association: Arteriovenous malformation in capillary malformation-arteriovenous malformation
gene-disease association: Capillary malformation of Capillary malformation-arteriovenous malformation
gene-disease association: Parkes Weber syndrome

SMAD4
type: Class
subclass of: Gene
gene-disease association: Arteriovenous fistula in juvenile polyposis associated with hereditary hemorrhagic telangiectasia
gene-disease association: Arteriovenous malformation in juvenile polyposis associated with hereditary hemorrhagic telangiectasia
gene-disease association: Juvenile polyposis associated with hereditary hemorrhagic telangiectasia

SOX18
type: Class
subclass of: Gene
gene-disease association: Hypotrichosis-lymphedema-telangiectasia

STAMBP
type: Class
subclass of: Gene
gene-disease association: Capillary malformation of microcephaly-capillary malformation
gene-disease association: Microcephaly-capillary malformation

Stenosis
type: Class
subclass of: Anomaly of diameter

Telangiectasia
type: Class
subclass of: Capillary malformation
comment: The CM nature of some subtypes of telangiectasia is debated. Some telangiectasia may be reclassified in other sections in the future.
alternative label: Other telangiectasia

TFE3
type: Class
subclass of: Gene
gene-disease association: Epithelioid hemangioendothelioma

VEGFC
type: Class
subclass of: Gene
gene-disease association: Primary hereditary lymphedema

VEGFR3
type: Class
subclass of: Gene
gene-disease association: Nonne-Milroy syndrome

Vein
type: Class
subclass of: Vessel

Vessel
type: Class

Bruna dos Santos Vieira
type: Thing
type: NamedIndividual

Leo Schultze Kool
type: Thing
type: NamedIndividual

Ronald Cornet
type: Thing
type: NamedIndividual

Philip van Damme
type: Thing
type: NamedIndividual

Martijn Kersloot
type: Thing
type: NamedIndividual