{"orpha":185,"name":"Scimitar syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital pulmonary venolobar syndrome","Epibronchial right pulmonary vein syndrome","Halasz syndrome","Hypogenetic lung syndrome"],"definition":"A rare congenital malformation characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt, and varying degrees of right lung hypoplasia, along with a systemic arterial supply to the right lung.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-185/","orphanet_url":"https://www.orpha.net/en/disease/detail/185","names":{"fr":{"name":"Syndrome du cimeterre","synonyms":["Hypogénésie pulmonaire","Syndrome de Halasz","Syndrome veinolobaire pulmonaire congénital"],"definition":"Malformation congénitale rare caractérisée par une association d'anomalies cardio-pulmonaires, notamment un retour veineux pulmonaire anormal partiel du poumon droit se faisant vers la veine cave inférieure, entraînant un shunt gauche-droit, et une hypoplasie de degré variable affectant le poumon droit, ainsi qu'un apport artériel systémique au poumon droit."},"de":{"name":"Scimitar-Syndrom","synonyms":["Anomalie der epibronchialen rechten Pulmonalarterie","Halasz-Syndrom","Hypogenetisches Lungensyndrom","Kongenitales pulmonales venolobares Syndrom"],"definition":"Eine seltene angeborene Fehlbildung, die durch eine Kombination von kardiopulmonalen Anomalien gekennzeichnet ist, einschließlich einer partiellen anomalen pulmonalvenösen Verbindung der rechten Lunge mit der Vena cavalis inferior, die zur Bildung eines Links-Rechts-Shunts führt. Weitere häufige Merkmale sind eine Hypoplasie der rechten Lunge in unterschiedlichem Ausmaß sowie eine systemische arterielle Versorgung der rechten Lunge."},"es":{"name":"Síndrome de la cimitarra","synonyms":["Síndrome del pulmón hipogenético","Síndrome venolobar pulmonar congénito","Síndrome de Halasz","Síndrome de la vena pulmonar epibronquial derecha"],"definition":"El síndrome de la cimitarra se caracteriza por una combinación de anomalías cardiopulmonares que incluyen un retorno venoso pulmonar anómalo parcial del pulmón derecho a la vena cava inferior, creando un cortocircuito izquierda-derecha."},"it":{"name":"Sindrome della scimitarra","synonyms":["Sindrome da ipogenesia polmonare","Sindrome di Halasz","Sindrome epibronchiale dell'arteria polmonare destra","Sindrome venolobare polmonare congenita"]},"nl":{"name":"Scimitar-syndroom","synonyms":["Congenitaal pulmonaal venolobair syndroom","Epibronchiale rechterlongader-syndroom","Hypogenetische long-syndroom","Syndroom van Halasz"],"definition":"Een zeldzame congenitale malformatie, gekenmerkt door een combinatie van cardiopulmonale anomalieën, waaronder partiële abnormale pulmonale veneuze verbinding van rechterlong naar vena cava inferior, wat leidt tot creatie van een links-rechtsshunt, en variabele mate van hypoplasie van rechterlong, in combinatie met een systemische arteriële bloedtoevoer naar de rechterlong."},"pt":{"name":"Síndrome Scimitar","synonyms":["Síndrome Halasz"],"definition":"A síndrome de cimitarra é caracterizada pela combinação de anomalias cardiopulmunares incluindo anomalia parcial da drenagem pulmonar venosa do pulmão direito para a veia cava inferior levando à criação de desvio da esquerda para direita."},"pl":{"name":"Zespół szabli tureckiej","synonyms":["Zespół Halasza"]},"cs":{"name":"Scimitar syndrom","synonyms":["Vrozený plicní venolobární syndrom","Syndrom pravé epibronchiální plicní tepny (žíly)","Syndrom hypogenetické plíce","Halaszův syndrom"]},"uk":{"name":"Scimitar синдром у складі вродженої вади серця з аномальним дренажем легеневих вен","synonyms":["Вроджений синдром легеневого веноблокатора","Синдром епібронхіальної правої легеневої вени","Синдром Халаша","Гіпогенетичний синдром легень"],"definition":"Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt."},"zh":{"name":"弯刀综合征","synonyms":["右肺支气管旁静脉综合征"]},"tr":{"name":"Scimitar sendromu","synonyms":["Halasz sendromu","Hipogenetik akciğer sendromu","Doğumsal pulmoner venolobar sendromu","Epibronşiyal sağ pulmoner ven sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q26.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA86.22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1321054364"},{"source":"MONDO","code":"0015987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012587","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036400","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051951","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98724,"name":"Congenital anomaly of the great arteries","classifications":[147,148,198]},{"orpha":98729,"name":"Congenital pulmonary veins anomaly","classifications":[147,148,198]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-20","source":"29398566[PMID]_28674724[PMID]_29054305[PMID]","terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005345","label":"Abnormal vena cava morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004971","label":"Pulmonary artery hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040045","label":"Abnormal hemidiaphragm morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100730","label":"Bronchogenic cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025495","label":"Descending aorta hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040044","label":"Hypoplasia of the diaphragm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011560","label":"Mitral atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010773","label":"Partial anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100632","label":"Pulmonary sequestration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001750","label":"Single ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011638","label":"Anomalous origin of left coronary artery from the pulmonary artery","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011671","label":"Interrupted inferior vena cava with azygous continuation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011670","label":"Left superior vena cava draining to coronary sinus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011662","label":"Tricuspid atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Very rare (<4-1%)","criteria":null}]}}