{"orpha":141127,"name":"Congenital tracheal stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141127/","orphanet_url":"https://www.orpha.net/en/disease/detail/141127","names":{"fr":{"name":"Sténose trachéale congénitale","definition":"Malformation rare caractérisée par un rétrécissement permanent de la lumière trachéale, principalement dû à des anneaux cartilagineux complets et à l'absence de la trachée membraneuse, donnant lieu à des difficultés respiratoires."},"de":{"name":"Trachealstenose, kongenitale","definition":"Eine seltene Fehlbildung, die durch eine feste Verengung des Tracheallumens gekennzeichnet ist, die in erster Linie auf vollständige Trachealknorpelringe und eine fehlende membranöse Trachea zurückzuführen ist, was zu Atemnot führt."},"es":{"name":"Estenosis traqueal congénita","definition":"Es una malformación poco frecuente caracterizada por el estrechamiento fijo de la luz traqueal debido principalmente a unos anillos de cartílago traqueales completos y una membrana traqueal ausente, causando dificultad respiratoria."},"it":{"name":"Stenosi congenita della trachea","definition":"Si tratta di una malformazione rara caratterizzata da un restringimento permanente del lume della trachea causato dalla presenza di anelli cartilaginei completi e dall'assenza della parete membranosa, che si associa a difficoltà respiratorie."},"nl":{"name":"Congenitale tracheale stenose","definition":"Een zeldzame malformatie, gekarakteriseerd door gefixeerde vernauwing van lumen van luchtpijp, hoofdzakelijk door volledige tracheale kraakbeenringen en afwezigheid van membraneuze trachea, met ademhalingsmoeilijkheden tot gevolg."},"pt":{"name":"Estenose traqueal, congénita"},"pl":{"name":"Wrodzone zwężenie tchawicy"},"cs":{"name":"Vrozená stenóza trachey"},"uk":{"name":"Вроджений стеноз трахеї","definition":"A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty."},"zh":{"name":"先天性气管狭窄","definition":"一种罕见畸形，其特征是气管软骨环完全闭合和可导致呼吸困难的膜状气管缺失所致的气管管腔固定狭窄。"},"tr":{"name":"Doğumsal trakeal stenoz"}},"xrefs":[{"source":"OMIM","code":"603569","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q32.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA73.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2095672409"},{"source":"MONDO","code":"0011340","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000715347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265767","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":435612,"name":"Genetic tracheal anomaly","classifications":[156]},{"orpha":156252,"name":"Tracheal anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Canada","status":"Validated","source":"16410137[PMID]_30159250[PMID]_32851317[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Canada","status":"Validated","source":"17712567[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-21","source":"28132084[PMID]_28964311[PMID]_29370890[PMID]_29846792[PMID]","terms":[{"hpo":"HP:0001612","label":"Weak cry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030923","label":"5-minute APGAR score of 3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002778","label":"Abnormal trachea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005607","label":"Abnormal tracheobronchial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011661","label":"Anomalous origin of left pulmonary artery from ascending aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002577","label":"Abnormal stomach morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031935","label":"Ascending aorta hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001791","label":"Fetal ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002245","label":"Meckel diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005151","label":"Preductal coarctation of the aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Very rare (<4-1%)","criteria":null}]}}