ORPHA:576227
Complete atrioventricular septal defect without ventricular hypoplasia
Synonyms: Balanced complete atrioventricular canal · CAVC without ventricular hypoplasia · Complete AVSD without ventricular hypoplasia · Complete atrioventricular canal defect without ventricular hypoplasia · Complete atrioventricular septal defect with balanced ventricles
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
This disease is described under Complete atrioventricular septal defect
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complete atrioventricular septal defect without ventricular hypoplasia | Balanced complete atrioventricular canal · CAVC without ventricular hypoplasia · Complete AVSD without ventricular hypoplasia · Complete atrioventricular canal defect without ventricular hypoplasia · Complete atrioventricular septal defect with balanced ventricles |
| fr | Canal atrioventriculaire complet sans hypoplasie ventriculaire | CAVC sans hypoplasie ventriculaire · Communication atrioventriculaire complète sans hypoplasie ventriculaire · Communication atrioventriculaire complète équilibrée · Communication auriculo-ventriculaire complète sans hypoplasie ventriculaire · Communication auriculo-ventriculaire complète équilibrée · Défaut complet du septum atrioventriculaire sans hypoplasie ventriculaire · Défaut septal atrioventriculaire complet sans hypoplasie ventriculaire · Défaut septal atrioventriculaire complet équilibré · Défaut septal auriculo-ventriculaire complet sans hypoplasie ventriculaire |
| de | Kompletter atrioventrikulärer Septumdefekt ohne ventrikuläre Hypoplasie | Kompletter atrioventrikulärer Kanal ohne ventrikuläre Hypoplasie |
| es | Comunicación auriculoventricular completa sin hipoplasia ventricular | Defecto septal auriculoventricular completo sin hipoplasia ventricular |
| it | Difetto completo del setto atrioventricolare senza ipoplasia ventricolare | AVSD completo senza ipoplasia ventricolare · CAVC senza ipoplasia ventricolare · Canale atrioventricolare completo bilanciato · Canale atrioventricolare completo senza ipoplasia ventricolare · Difetto completo del setto atrioventricolare con ventricoli bilanciati |
| nl | Totaal atrioventriculair septumdefect zonder ventrikelhypoplasie | |
| pt | Defeito septal auriculoventricular completo sem hipoplasia ventricular | |
| pl | Całkowity ubytek przegrody przedsionkowo-komorowej bez hipoplazji komór | Całkowity AVSD bez hipoplazji komór |
| cs | Úplný atrioventrikulární septální defekt bez ventrikulární hypoplázie | = en |
| uk | Повна атріовентрикулярна комунікація без гіпоплазії шлуночків | Збалансований повний атріовентрикулярний канал · CAVC без гіпоплазії шлуночків · Повна вада атріовентрикулярного каналу без гіпоплазії шлуночків · Повний дефект атріовентрикулярної перегородки зі збалансованими шлуночками · Повна AVSD без гіпоплазії шлуночків |
| zh | 完全性房室间隔缺损伴无心室发育不良 | Complete AVSD without ventricular hypoplasia |
| tr | Ventriküler hipoplazisiz tam atriyoventriküler septal defekt | Dengeli ventriküller ile seyreden atriyoventriküler septal defekt · Ventriküler hipoplazi ile seyretmeyen tam atriyoventriküler kanal defekti · Ventriküler hipoplazisiz ile seyreden CAVC · Dengeli tam atriyoventriküler kanal · Ventriküler hipoplazisiz ile seyreden tam AVSD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.2 | NTBT | attributed | validated |
| UMLS | C5680353 | 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:1329Complete atrioventricular septal defect
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MEF2C | Major susceptibility factor in | Assessed | HGNC:6996 | ENSG00000081189 | 600662 | 5q14.3 | myocyte enhancer factor 2C | 35719119[PMID] |
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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/576227
- This record as JSON: /data/d/576227.json