ORPHA:576242
Intermediate atrioventricular septal defect
Synonyms: Intermediate AVSD · Intermediate atrioventricular canal defect · Transitional atrioventricular canal defect
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare congenital non-syndromic heart malformation characterized by a common atrioventricular junction with a single atrioventricular valve ring, accompanied by an ostium primum type atrial septal defect and a small ventricular septal defect.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate atrioventricular septal defect | Intermediate AVSD · Intermediate atrioventricular canal defect · Transitional atrioventricular canal defect |
| fr | Canal atrioventriculaire intermédiaire | CAV intermédiaire · Communication atrioventriculaire intermédiaire · Communication auriculo-ventriculaire intermédiaire · Défaut septal atrioventriculaire transitionnel · Défaut septal atrioventriculaire intermédiaire · Défaut septal auriculo-ventriculaire intermédiaire |
| de | Intermediärer atrioventrikulärer Septumdefekt | |
| es | Comunicación auriculoventricular intermedia | Defecto septal auriculoventricular intermedio |
| it | Difetto intermedio del setto atrioventricolare | AVSD intermedio · Canale atrioventricolare intermedio · Canale atrioventricolare transizionale |
| nl | Intermediair atrioventriculair septumdefect | |
| pt | Defeito septal auriculoventricular intermédio | |
| pl | Ubytek przegrody przedsionkowo-komorowej średnio zaawansowany | Ubytek przegrody przedsionkowo-komorowej przejściowy |
| cs | Střední atrioventrikulární septální defekt | = en |
| uk | Помірно виражена атріовентрикулярна комінікація | Дефект проміжного атріовентрикулярного каналу · Проміжний AVSD · Перехідна вада атріовентрикулярного каналу |
| zh | 房室间隔缺损 | 过渡型房室管缺损 |
| tr | Orta atriyoventriküler septal defekt | Orta düzey AVSD · Orta atriyoventriküler kanal defekti · Transisyonel atriyoventriküler kanal defekti |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.2 | NTBT | attributed | validated |
| ICD-11 | LA87.42 | NTBT | index | validated |
| MONDO | 0035557 | E | validated | |
| UMLS | C4023291 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98722Atrioventricular septal defect
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576242
- This record as JSON: /data/d/576242.json