{"orpha":141121,"name":"Congenital subglottic stenosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141121/","orphanet_url":"https://www.orpha.net/en/disease/detail/141121","names":{"fr":{"name":"Sténose sous-glottique congénitale","definition":"Anomalie rare du larynx caractérisée par le rétrécissement complet ou partiel des voies respiratoires supérieures, allant de la zone située sous les cordes vocales au bord inférieur du cartilage cricoïde. La présentation clinique, inconstante, comprend des infections récurrentes des voies respiratoires supérieures de type croup, un stridor, une dyspnée, une toux rauque et, dans les cas les plus sévères, une atteinte aiguë des voies respiratoires à la naissance. La sténose peut survenir de manière isolée ou être associée à d'autres anomalies ou syndromes congénitaux."},"de":{"name":"Subglottisstenose, kongenitale","definition":"Eine seltene Kehlkopfanomalie, die durch eine teilweise oder vollständige Verengung der oberen Atemwege gekennzeichnet ist, die sich von knapp unterhalb der Stimmlippen bis zum unteren Rand des Krikoidknorpels erstreckt. Das klinische Erscheinungsbild ist variabel und umfasst wiederkehrende kruppähnliche Infektionen der oberen Atemwege, Stridor, Dyspnoe, bellenden Husten und in den schwersten Fällen eine akute Beeinträchtigung der Atemwege bei der Geburt. Es kann ein isolierter Befund sein oder in Verbindung mit anderen kongenitalen Anomalien und Syndromen auftreten."},"es":{"name":"Estenosis subglótica congénita","definition":"Es una anomalía laríngea poco frecuente caracterizada por un estrechamiento total o parcial de la vía aérea superior que se extiende desde debajo de las cuerdas vocales hasta el margen inferior del cartílago cricoides. La presentación clínica es variable e incluye infecciones recurrentes de tipo tosferina de las vías respiratorias superiores, estridor, disnea, tos seca, y en los casos más graves, compromiso agudo de las vías respiratorias en el momento del parto. Puede tratarse de un hallazgo aislado o asociado a otras anomalías y síndromes congénitos."},"it":{"name":"Stenosi subglottica congenita","definition":"È un'anomalia rara della laringe, caratterizzata dal restringimento parziale o completo delle vie aeree superiori, che si estende dalla porzione sottostante le corde vocali fino al margine inferiore della cartilagine cricoide. Il quadro clinico è variabile, e comprende le infezioni ricorrenti simil-difterite delle vie aeree superiori, lo stridore, la dispnea, la tosse abbaiante e, nei casi più gravi, la compromissione acuta delle vie aeree al momento della nascita. Può essere isolata oppure associarsi ad altre anomalie e sindromi congenite."},"nl":{"name":"Congenitale subglottisstenose","synonyms":["Congenitale subglottische stenose"],"definition":"Een zeldzame anomalie van de larynx, gekarakteriseerd door een gedeeltelijke of volledige vernauwing van de bovenste luchtpijp, gaande van net onder de stembanden tot de onderste grens van het ringkraakbeen. Het klinisch beeld is variabel en omvat recurrente, kroep-achtige infecties van de bovenste luchtwegen, stridor, dyspneu, blaffende hoest, en in de meest ernstige gevallen acute ademhalingsproblemen bij de geboorte. Het kan een geïsoleerde bevinding zijn, of geassocieerd zijn met andere congenitale anomalieën en syndromen."},"pt":{"name":"Estenose subglótica, congénita"},"pl":{"name":"Wrodzone zwężenie podgłośniowe"},"cs":{"name":"Vrozená subglotická stenóza"},"uk":{"name":"Вроджений субгортанний стеноз","definition":"A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes."},"zh":{"name":"先天性声门下狭窄","definition":"一种罕见喉畸形，其特征是从声襞下方延伸至环状软骨下缘的上呼吸道部分或完全狭窄。临床表现多样，包括反复发作，义膜性喉炎样，上呼吸道感染，喘鸣，呼吸困难，犬吠样咳嗽，且最严重情况为分娩时急性气道损害。该病可能单独发现，也可能与其他先天性异常和综合征相关。"},"tr":{"name":"Doğumsal subglottik stenoz"}},"xrefs":[{"source":"ICD-10","code":"Q31.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA71.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"76585642"},{"source":"MONDO","code":"0015395","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0396051","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19952","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087149","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}