Peripheral arteriovenous malformation
Synonyms: Peripheral AVM
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare fast-flow vascular malformation characterized by direct connections between extracranial arteries and veins bypassing the capillary bed due to abnormal vasculogenesis or angiogenesis. These fast-flow vascular lesions comprise numerous vessels which may be tortuous and dysfunctional, resulting in red discoloration, pain, ulceration, bleeding, and severe deformities. They are primarily found in the head and neck region, followed by the limbs and trunk.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peripheral arteriovenous malformation | Peripheral AVM |
| fr | Malformation artérioveineuse périphérique | MAV phériphérique |
| de | Periphere arteriovenöse Fehlbildung | Periphere AVM · Periphere arteriovenöse Malformation |
| es | Malformación arteriovenosa periférica | MAV periférica |
| it | Malformazione arterovenosa periferica | MAV periferica |
| nl | Perifere arterioveneuze malformatie | Perifere AVM |
| pt | Peripheral arteriovenous malformation | |
| pl | Obwodowa malformacja tętniczo-żylna | = en |
| cs | Peripheral arteriovenous malformation | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q27.8 | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:707944Peripheral fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708046
- This record as JSON: /data/d/708046.json