{"orpha":2357,"name":"Bronchogenic cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2357/","orphanet_url":"https://www.orpha.net/en/disease/detail/2357","names":{"fr":{"name":"Kyste bronchogénique","definition":"Malformations congénitales rares dérivées d'un bourgeon anormal de l'intestin antérieur, situé le plus souvent dans le médiastin."},"de":{"name":"Bronchogene Zyste","definition":"Angeborene Fehlbildungen, die durch abnormales Auswachsen des embryonalen Vorderdarms entstehen und am häufigsten im Mediastinum auftreten."},"es":{"name":"Quiste broncogénico","definition":"Es una malformación congénita que resulta de un brote anómalo del intestino anterior y que se encuentra con mayor frecuencia en el mediastino."},"it":{"name":"Cisti broncogene"},"nl":{"name":"Bronchogenische cyste","definition":"Bronchogene cysten (BCs) zijn aangeboren afwijkingen als gevolg van een abnormaal beginnende ontwikkeling van de voordarm en worden meestal gevonden in het mediastinum."},"pt":{"name":"Quisto broncogénico"},"pl":{"name":"Torbiel bronchogenna"},"cs":{"name":"Bronchogenní cysta"},"uk":{"name":"Бронхогенна кіста","definition":"Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum."},"zh":{"name":"支气管囊肿"},"tr":{"name":"Bronkojenik kist"}},"xrefs":[{"source":"ICD-10","code":"J98.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB40.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"355400995"},{"source":"MONDO","code":"0016523","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0006281","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1025","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":649014,"name":"Bronchial malformation","classifications":[147,184,186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"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":"2021-07-07","source":"25669636[PMID]_33093904[PMID]_30702626[PMID]_29081395[PMID]_28334597[PMID]_30725658[PMID]_12809250[PMID]","terms":[{"hpo":"HP:0100730","label":"Bronchogenic cyst","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031983","label":"Abnormal pulmonary thoracic imaging finding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002031","label":"Abnormal esophagus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032016","label":"Abnormal sputum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032445","label":"Pulmonary cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001697","label":"Abnormal pericardium morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002577","label":"Abnormal stomach morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000775","label":"Abnormality of the diaphragm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002699","label":"Abnormality of the foramen magnum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002585","label":"Abnormality of the peritoneum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null}]}}