Brain arteriovenous malformation, nidus type
Synonyms: Cerebral arteriovenous malformation
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- All ages
- Status
- active
Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brain arteriovenous malformation, nidus type | Cerebral arteriovenous malformation |
| fr | Malformation artério-veineuse cérébrale, type nidus | |
| de | Arteriovenöse Malformation des Gehirns vom Nidus-Typ | Fehlbildung, arteriovenöse zerebrale, Nidus-Typ · Zerebrale Gefäßmalformation · cAVM |
| es | Malformación arteriovenosa del cerebro, tipo nido | Malformación arteriovenosa cerebral |
| it | Malformazione arterovenosa cerebrale a nido | Malformazione arterovenosa cerebrale |
| nl | Arterioveneuze malformatie van hersenen, nidus-type | Cerebrale arterioveneuze malformatie, nidus-type · AVM van hersenen, nidus-type · Cerebrale AVM, nidus-type |
| pt | Malformação arterio-venosa cerebral | |
| pl | Malformacja tętniczo-żylna mózgu | Przetoka tętniczo-żylna mózgu · Wewnątrzczaszkowe malformacje tętniczo-żylne |
| cs | Arteriovenózní malformace v mozku | Cerebrální arteriovenózní shunt · Intrakraniální arteriovenózní malformace · Arteriovenózní píštěl v mozku |
| uk | Церебральна артеріовенозна мальформація | Внутрішньочерепна артеріовенозна мальформація |
| zh | 脑动静脉畸形 | 颅内动静脉畸形 |
| tr | Serebral arteriyovenöz malformasyon | İntrakraniyal arteriyovenöz malformasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108010 | E | validated | |
| ICD-10 | Q28.2 | NTBT | attributed | validated |
| ICD-11 | 8B22.40 | E | specific | validated |
| MONDO | 0007154 | E | validated | |
| MeSH | D002538 | E | validated | |
| UMLS | C0917804 | E | validated | |
| GARD | 3020 | E | validated | |
| MedDRA | 10056371 | E | 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:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:211240Genetic vascular anomaly
rare genetic diseases - ORPHA:715750Intracranial fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare neurological diseases; 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 | 1-9 / 100 000 | 6 / 100 000 | Europe | Value and class | Not yet 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
11 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0100784 | Peripheral arteriovenous fistula | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0100543 | Cognitive impairment | |
| HP:0030746 | Intraventricular hemorrhage | |
| HP:0002354 | Memory impairment | |
| HP:0001250 | Seizure | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002315 | Headache | |
| HP:5200044 | Reduced attention regulation | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31465157[PMID]_25175445[PMID]_25465120[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46724
- This record as JSON: /data/d/46724.json