Hepatic arteriovenous malformation
Synonyms: Arteriovenous malformation of the liver · Congenital hepatic arteriovenous malformation · HAVM
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare visceral arteriovenous malformation characterized by direct arterial-to-venous connections within the liver. Patients may be asymptomatic or present with symptoms such as anemia, consumptive coagulopathy, portal hypertension, hepatomegaly and may develop complications including congestive heart failure, necrosis of the liver or hydrops fetalis.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hepatic arteriovenous malformation | Arteriovenous malformation of the liver · Congenital hepatic arteriovenous malformation · HAVM |
| fr | Malformation artérioveineuse hépatique | HAVM · MAVh · Malformation artérioveineuse du foie |
| de | Hepatische arteriovenöse Fehlbildung | Arteriovenöse Fehlbildung der Leber · HAVM · Kongenitale hepatische arteriovenöse Fehlbildung |
| es | Malformación arteriovenosa hepática | MAVH · Malformación arteriovenosa del hígado · Malformación arteriovenosa hepática congénita |
| it | Malformazione arterovenosa epatica | Malformazione arterovenosa del fegato · Malformazione arterovenosa epatica congenita · HAVM |
| nl | Arterioveneuze malformatie van lever | Congenitale hepatische arterioveneuze malformatie · HAVM · Hepatische arterioveneuze malformatie |
| pt | Malformação arteriovenosa hepática | Malformação arteriovenosa do fígado · Malformação arteriovenosa hepática congénita · HAVM |
| pl | Malformacja tętniczo-żylna wątroby | = en |
| cs | Hepatic arteriovenous malformation | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q27.3 | NTBT | attributed | validated |
| ICD-11 | LA90.3Y | 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 (3):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101938Rare vascular liver disease
rare hepatic diseases - ORPHA:693855Visceral 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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/693846
- This record as JSON: /data/d/693846.json