{"orpha":93941,"name":"Laryngotracheoesophageal cleft type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LTEC IV","LTEC4","Laryngo-tracheo-esophageal cleft type 4"],"definition":"A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93941/","orphanet_url":"https://www.orpha.net/en/disease/detail/93941","names":{"fr":{"name":"Fente laryngo-trachéo-oesophagienne type 4","synonyms":["LTEC IV","LTEC4"],"definition":"La fente laryngo-trachéo-oesophagienne (FLTO) de type 4 est une malformation congénitale sévère de l'appareil respiratoire, caractérisée par une fente étendue à la trachée thoracique, parfois jusqu'à la carène, avec détresse respiratoire."},"de":{"name":"Laryngo-tracheo-ösophageale Spalte Typ 4","synonyms":["LTEC IV","LTEC4"],"definition":"Die Laryngo-tracheo-ösophageale Spalte (LC) Typ 4 ist eine schwere angeborene Fehlbildung der Atemwege und gekennzeichnet durch eine Spalte, die sich bis in den thorakalen Bereich der Trachea und evtl. bis zur Carina ausdehnt und von Atemstörungen begleitet ist."},"es":{"name":"Hendidura laringotraqueoesofágica tipo 4","synonyms":["Hendidura laringo-traqueo-esofágica tipo 4","LTEC IV","LTEC4"],"definition":"Es una grave anomalía congénita del tracto respiratorio caracterizada por una hendidura que se extiende dentro de la tráquea torácica, en ocasiones hasta la carina, con dificultades respiratorias."},"it":{"name":"Schisi laringo-tracheo-esofagea, tipo 4","synonyms":["LTEC IV","LTEC4"],"definition":"La schisi laringo-tracheo-esofagea (LC) tipo 4 è un grave difetto congenito delle vie respiratorie, caratterizzato da una schisi che si estende nella trachea toracica ed eventualmente fino alla carena, associata a distress respiratorio."},"nl":{"name":"Laryngo-tracheo-oesofageale fissuur type 4","synonyms":["LTEC IV","LTEC4"],"definition":"Een ernstige congenitale anomalie van luchtwegen, gekenmerkt door een spleet die zich uitstrekt tot in de thoracale luchtpijp en mogelijk tot in de carina, met respiratoire insufficiëntie."},"pt":{"name":"Fenda laringotraqueoesofágica tipo 4","definition":"A fenda laringo-traqueo-esofágica (LC) tipo 4 é uma anomalia congénita grave do trato respiratório caracterizada por uma fenda que se estende até à traqueia torácica e, possivelmente, até a carina, com desconforto respiratório."},"pl":{"name":"Rozszczep krtaniowo-tchawiczo-przełykowy typu 4","synonyms":["LTEC4","LTEC IV"]},"cs":{"name":"Laryngotracheoezofageální rozštěp, typ 4","synonyms":["LTEC IV","LTEC4"]},"uk":{"name":"Ларинготрахеостравохідна розщілина, тип 4","synonyms":["Ларинго-трахео-стравохідна щілина 4 типу","LTEC IV","LTEC4"],"definition":"A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress."},"zh":{"name":"喉气管食管裂4型","synonyms":["喉-气管-食管裂4型"],"definition":"一种严重的先天性呼吸道畸形，其特征是裂隙延伸到胸部气管，可能向下延伸至隆突，伴有呼吸窘迫。"},"tr":{"name":"Laringotrakeoözofageal yarık tip 4","synonyms":["LTEC4","LTEC IV","Laringo-trakeo-özofageal yarık tip 4"]}},"xrefs":[{"source":"ICD-10","code":"Q32.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA72","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2016894416"},{"source":"MONDO","code":"0019764","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0584827","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2005,"name":"OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2004,"name":"Laryngotracheoesophageal cleft","classifications":[147,156,182,184,186,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Frequent (79-30%)","criteria":null}]}}