{"orpha":99122,"name":"Congenital stenosis of the inferior vena cava","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital stenosis of the IVC","Congenital stenosis of the inferior caval vein"],"definition":"A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99122/","orphanet_url":"https://www.orpha.net/en/disease/detail/99122","names":{"fr":{"name":"Sténose congénitale de la veine cave inférieure","definition":"Anomalie vasculaire rare caractérisée par un rétrécissement congénital de la veine cave inférieure, principalement au niveau du diaphragme ou du segment hépatique, avec ou sans formation d'un réseau en toile d'araignée. Les patients peuvent présenter une thrombose veineuse profonde sous le segment obstrué, des gonflements des membres inférieurs, des douleurs et des varices, des douleurs et/ou varices abdominales ou une hématochézie. Une vascularisation par des collatérales entre les segments supérieur et inférieur de la sténose, ainsi que des anévrismes veineux sont des observations associées typiques."},"de":{"name":"Kongenitale Stenose der Vena cava inferior","synonyms":["Angeborene Stenose der unteren Hohlvene","IVC-Stenose, kongenitale"],"definition":"Eine seltene Gefäßanomalie, die durch eine angeborene Verengung der Vena cava inferior, meist auf der Höhe des Zwerchfells oder des Lebersegments, mit oder ohne Stegbildung gekennzeichnet ist. Die Patienten können eine tiefe Venenthrombose unterhalb des verengten Segments, sowie Schwellungen der unteren Extremitäten, Schmerzen und Varizen, abdominelle Schmerzen/Varizen oder Hämatochezie aufweisen. Das Vorhandensein von Kollateralvenen zwischen den oberen und unteren Segmenten der Stenose sowie venöse Aneurysmen sind typische Begleitbefunde."},"es":{"name":"Estenosis congénita de la vena cava inferior","synonyms":["Estenosis congénita de la VCI"],"definition":"Es una anomalía congénita vascular poco frecuente caracterizada por un estrechamiento de la vena cava inferior principalmente a nivel diafragmático o del segmento hepático, con o sin formación de membranas. Los pacientes pueden presentar trombosis venosa profunda por debajo del segmento obstruido, así como hinchazón, dolor y varices de las extremidades inferiores, dolor abdominal o hematoquecia. Son típicos la presencia de venas colaterales entre los segmentos superior e inferior de la estenosis y los aneurismas venosos."},"it":{"name":"Stenosi congenita della vena cava inferiore","definition":"Si tratta di un'anomalia vascolare rara, caratterizzata da un restringimento congenito della vena cava inferiore, localizzato per lo più a livello del diaframma o del segmento epatico, con o senza formazione di reticoli. I pazienti presentano trombosi venosa profonda al di sotto del segmento ostruito, gonfiore degli arti inferiori, dolore, varici, dolore/varici addominali o ematochezia. Altri segni clinici caratteristici sono la presenza di vene collaterali al di sopra o al di sotto del tratto stenosato, e gli aneurismi venosi."},"nl":{"name":"Congenitale stenose van vena cava inferior","synonyms":["Congenitale stenose van VCI","Congenitale stenose van onderste holle ader"],"definition":"Een zeldzame vasculaire anomalie, gekarakteriseerd door congenitale vernauwing van vena cava inferior, vooral ter hoogte van diafragmatisch of hepatisch segment, met of zonder vorming van spinnenwebben. Patiënten vertonen mogelijk diepveneuze trombose onder het geblokkeerde segment, zwelling, pijn en spataders in onderste ledematen, abdominale pijn/spataders, of hematochezie. Aanwezigheid van collateralen tussen bovenste en onderste segmenten van de stenose, alsook veneuze aneurysmata zijn typische geassocieerde bevindingen."},"pt":{"name":"Estenose da VCI, congénita"},"pl":{"name":"Wrodzone zwężenie żyły głównej dolnej","synonyms":["Wrodzone zwężenie IVC"]},"cs":{"name":"Vrozená stenóza dolní duté žíly","synonyms":["Vrozená stenóza VCI"]},"uk":{"name":"Вроджений стеноз нижньої порожнистої вени","synonyms":["Вроджений стеноз нижньої порожнистої вени","Вроджений стеноз нижньої порожнистої вени"],"definition":"A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings."},"zh":{"name":"下腔静脉先天性狭窄","synonyms":["先天性IVC狭窄"]},"tr":{"name":"İnferior vena kavanın Doğumsal stenozu","synonyms":["IVC'nin Doğumsal stenozu","Alt kaval venin Doğumsal stenozu"]}},"xrefs":[{"source":"ICD-10","code":"Q26.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA86.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"100656181"},{"source":"MONDO","code":"0020451","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265934","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}