{"orpha":99123,"name":"Inferior vena cava interruption without azygos continuation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["IVC interruption","Inferior caval vein interruption"],"definition":"A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99123/","orphanet_url":"https://www.orpha.net/en/disease/detail/99123","names":{"fr":{"name":"Interruption de la veine cave inférieure sans continuation azygos","definition":"Anomalie congénitale rare de la veine cave inférieure, caractérisée par une interruption complète du vaisseau dépourvu de continuité directe entre la veine cave inférieure et le système azygos/hemi-azygos. Parmi les manifestations cliniques qui dépendent de la variante des schémas de drainage ou des collatérales de drainage on peut citer, entre autres, la thrombose veineuse profonde des membres inférieurs, les événements thromboemboliques, le gonflement et la douleur des jambes, les varices des membres inférieurs, les douleurs abdominales, les varices intra-abdominales et l'hématochézie. D'autres anomalies veineuses ou malformations cardiaques sont fréquemment présentes."},"de":{"name":"Unterbrechung der Vena cava inferior ohne Azygoskontinuität","synonyms":["IVC-Unterbrechung","Unterbrechung der unteren Hohlvene","Vena cava inferior-Unterbrechung"],"definition":"Eine angeborene Anomalie der Vena cava inferior, die durch eine vollständige Unterbrechung des Gefäßes gekennzeichnet ist, bei der keine direkte Kontinuität zwischen der Vena cava inferior und dem Azygos/Hemiazygos-System besteht. Die klinischen Manifestationen hängen von den unterschiedlichen Abflussmustern oder Kollateralen ab und umfassen unter anderem tiefe Venenthrombosen der unteren Extremitäten, thromboembolische Anfälle, Beinschwellungen und -schmerzen, Varizen der unteren Extremitäten, Bauchschmerzen, intraabdominale Varizen und Hämatochezie. Häufig liegen zusätzliche venöse Anomalien oder kardiale Fehlbildungen vor."},"es":{"name":"Interrupción de la vena cava inferior sin continuación por la vena ácigos","synonyms":["Interrupción de la VCI","Interrupción de la vena cava inferior"],"definition":"Es una anomalía congénita poco frecuente de la vena cava inferior, caracterizada por la interrupción completa del vaso sin continuidad directa entre la vena cava inferior y el sistema de las venas ácigos/hemiácigos. Las manifestaciones clínicas dependen de la variedad de los patrones de drenaje o colaterales e incluyen la trombosis venosa profunda de las extremidades inferiores, ataques tromboembólicos, hinchazón y dolor de piernas, varices en las extremidades inferiores, dolor abdominal, varices intraabdominales y hematoquecia, entre otras. Con frecuencia se presentan anomalías venosas o malformaciones cardíacas adicionales."},"it":{"name":"Interruzione della vena cava inferiore senza continuità con il sistema azygos","definition":"Si tratta di un'anomalia congenita rara della vena cava inferiore, caratterizzata dall'interruzione completa del vaso, in assenza di continuità diretta tra la vena cava inferiore e il sistema azygos/emiazygos. Il quadro clinico dipende dalle varianti e dalle collaterali del drenaggio, e comprende la trombosi venosa profonda degli arti inferiori, gli episodi tromboembolici, il gonfiore e il dolore alle gambe, le varici degli arti inferiori, il dolore addominale, le varici intraddominali e l'ematochezia. Spesso i pazienti presentano anche altre anomalie venose o cardiopatie."},"nl":{"name":"Interruptie van vena cava inferior zonder continuatie van vena azygos","synonyms":["Interruptie van vena cava inferior","Onderbreking van onderste holle ader","Onderbreking van onderste holle ader zonder azygoscontinuatie","VCI-onderbreking"],"definition":"Een zeldzame congenitale anomalie van vena cava inferior, gekarakteriseerd door volledige onderbreking van het bloedvat waarbij geen directe continuïteit bestaat tussen vena cava inferior en azygos/hemiazygos-systeem. Klinische manifestaties zijn afhankelijk van de variante drainagepatronen of collaterale bloedvaten, en omvatten onder meer diepveneuze trombose van onderste ledematen, trombo-embolische aanvallen, zwelling en pijn van been, spataders van onderste ledematen, abdominale pijn, intra-abdominale spataders, en hematochezie. Vaak zijn bijkomende veneuze afwijkingen of hartmalformaties aanwezig."},"pt":{"name":"Interrupção da VCI"},"pl":{"name":"Przerwanie żyły głównej tylnej","synonyms":["Przerwanie IVC"]},"cs":{"name":"Přerušení dolní duté žíly","synonyms":["Interrupce dolní duté žíly","Přerušení VCI"]},"uk":{"name":"Перерив нижньої порожнистої вени без продовження в непарну вену (v.azygos)","synonyms":["Переривання нижньої порожнистої вени","Переривання НПВ"],"definition":"A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present."},"zh":{"name":"下腔静脉中断不伴奇静脉延续","synonyms":["IVC中断"],"definition":"下腔静脉畸形一种罕见的先天性下腔静脉畸形，其特征是血管完全中断，下腔静脉与奇/半奇静脉之间失去连续性。临床表现取决于不同的引流方式或侧支形成，主要有下肢深静脉血栓形成、血栓栓塞发作、腿部肿胀和疼痛、下肢静脉曲张、腹痛、腹内静脉曲张和便血等。其他静脉畸形或心脏畸形经常出现。"},"tr":{"name":"Azigos devamı olmayan inferior vena kava kesintisi","synonyms":["IVC kesintisi","Alt kaval ven kesintisi"]}},"xrefs":[{"source":"ICD-10","code":"Q26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA86.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020452","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"20452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680291","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95499,"name":"Congenital anomaly of the inferior vena cava","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}