{"orpha":2374,"name":"Isolated congenital laryngeal web","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2374/","orphanet_url":"https://www.orpha.net/en/disease/detail/2374","names":{"fr":{"name":"Palmure congénitale du larynx isolée","definition":"Malformation rare du larynx caractérisée par une structure à type de membrane d'épaisseur variable obstruant la lumière laryngée au niveau des cordes vocales."},"de":{"name":"Larynxnetz, isoliertes kongenitales","synonyms":["Diaphragma laryngis"],"definition":"Eine seltene Fehlbildung des Kehlkopfes, die durch eine membranartige Struktur unterschiedlicher Dicke gekennzeichnet ist, die sich über das Lumen des Kehlkopfes zwischen den Stimmbändern erstreckt."},"es":{"name":"Membrana laríngea congénita aislada","definition":"Es una malformación laríngea poco frecuente caracterizada por una estructura similar a una membrana de espesor variable que se extiende a través de la luz laríngea entre las cuerdas vocales."},"it":{"name":"Membrana laringea congenita isolata"},"nl":{"name":"Geïsoleerd congenitaal web van larynx","synonyms":["Geïsoleerd congenitaal laryngeaal web","Geïsoleerd congenitaal larynxweb"],"definition":"Een zeldzame malformatie van larynx, gekenmerkt door een membraanachtige structuur van variabele dikte die zich uitstrekt over het laryngeale lumen, tussen de stembanden."},"pt":{"name":"Teia laringeal congénita isolada","definition":"Malformação laríngea rara caracterizada por uma estrutura semelhante a uma membrana de espessura variável que se estende pelo lúmen laríngeo, entre as cordas vocais."},"pl":{"name":"Wrodzona przepona krtani"},"cs":{"name":"Rete laryngis"},"uk":{"name":"Ізольована вроджена гортанна перетинка","definition":"A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords."},"zh":{"name":"先天性喉蹼"},"tr":{"name":"Doğumsal laringeal ağ"}},"xrefs":[{"source":"OMIM","code":"150360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q31.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1641764672"},{"source":"MONDO","code":"0007880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924995","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023871","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":435609,"name":"Genetic larynx anomaly","classifications":[156]},{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"33194889[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":null}]}}