{"orpha":458833,"name":"Isolated lymphatic malformation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Common cystic lymphatic malformation"],"definition":"A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-458833/","orphanet_url":"https://www.orpha.net/en/disease/detail/458833","names":{"fr":{"name":"Malformation lymphatique isolée","synonyms":["Malformation lymphatique kystique"],"definition":"Groupe de malformations lymphatiques rares caractérisé par des malformations congénitales bénignes et multifocales des vaisseaux lymphatiques des tissus mous, entraînant des lésions kystiques indolores observées principalement dans la région de la tête et du cou (mais d'autres régions peuvent être touchées) et dont la présentation clinique varie en fonction de la taille et de la localisation des lésions. En fonction de la taille du ou des kyste(s) contenu(s) dans la lésion, les catégories suivantes sont définies : malformations lymphatiques macrokystiques, malformations lymphatiques microkystiques ou malformations lymphatiques kystiques mixtes. Des complications fonctionnelles et vitales (dont respiration et alimentation) peuvent être observées."},"de":{"name":"Isolierte lymphatische Fehlbildung","synonyms":["Lymphatische Malformation, gewöhnliche"],"definition":"Eine Gruppe seltener lymphatischer Fehlbildungen, die durch solitäre oder multifokale, gutartige, angeborene Fehlbildungen der Lymphgefäße in den Weichteilen gekennzeichnet sind und zu schmerzlosen zystischen Läsionen führen, die vorwiegend im Kopf- und Halsbereich auftreten (aber jede Stelle betreffen können) und je nach Größe und Lokalisation der Läsion ein variables klinisches Bild aufweisen. Die Einteilung in makrozystische lymphatische Fehlbildungen, mikrozystische lymphatische Fehlbildungen oder gemischte zystische lymphatische Fehlbildungen erfolgt anhand der Größe der in der Läsion enthaltenen Zyste(n). Es können funktionelle Defizite und eine Beeinträchtigung der Vitalfunktionen (einschließlich Atmung und Ernährung) beobachtet werden."},"es":{"name":"Malformación linfática aislada","synonyms":["Malformación linfática quística común"],"definition":"Es un grupo poco frecuente de trastornos de malformación linfática que se caracterizan por una malformación congénita benigna, aislada o multifocal, de los vasos linfáticos de los tejidos blandos. Las malformaciones consisten en lesiones quísticas indoloras localizadas predominantemente en la cabeza y el cuello (pero que pueden afectar a cualquier parte del cuerpo), y que tienen una presentación clínica variable según el tamaño y la localización específicos de la lesión. La clasificación en malformaciones linfáticas macroquísticas, malformaciones linfáticas microquísticas o malformaciones linfáticas quísticas mixtas se basa en el tamaño del quiste(s) contenido(s) en la lesión. También puede observarse déficits funcionales y compromiso de las funciones vitales (incluyendo la respiración y la alimentación)."},"it":{"name":"malformazione linfatica isolata","synonyms":["Malformazione linfatica cistica comune"],"definition":"Si tratta di un gruppo di malformazioni linfatiche rare, caratterizzate da una malformazione congenita benigna, solitaria o multifocale, dei vasi linfatici nei tessuti molli, che si associa a lesioni cistiche indolori, localizzate prevalentemente sulla testa e sul collo (ma che possono interessare qualsiasi area del corpo). Il quadro clinico è variabile e dipende dalle dimensioni e dalla localizzazione della lesione. Le malformazioni vengono suddivise in malformazioni linfatiche macrocistiche, malformazioni linfatiche microcistiche e malformazioni linfatiche cistiche miste, a seconda delle dimensioni della/e cisti contenute nella lesione. I pazienti possono presentare deficit funzionali e compromissione delle funzioni vitali (respirazione e alimentazione)."},"nl":{"name":"Geïsoleerde lymfatische malformatie","synonyms":["Geïsoleerde malformatie van lymfestelsel","Gewone cystische lymfatische malformatie"],"definition":"Een groep van zeldzame malformaties van lymfestelsel, gekenmerkt door solitaire of multifocale, goedaardige, congenitale malformatie van lymfevaten in weke delen, die resulteert in pijnloze cystische laesies die voornamelijk worden aangetroffen in hoofd en hals (maar eender waar kunnen optreden) en die variabele klinische presentaties vertonen, afhankelijk van de specifieke omvang en locatie van de laesie. Onderverdeling in macrocystische lymfatische malformaties, microcystische lymfatische malformaties of gemengde cystische lymfatische malformaties gebeurt op basis van de omvang van de cyste(n) in de laesie. Functionele stoornissen en aantasting van vitale functies (waaronder ademhaling en voeding) kunnen mogelijk ook waargenomen worden."},"pt":{"name":"Ataxia - apraxia oculomotora, tipo 4"},"pl":{"name":"Powszechna torbielowata malformacja limfatyczna","synonyms":["Common cystic lymphatic malformation"]},"cs":{"name":"Běžné cystické lymfatické malformace","synonyms":["Common cystic lymphatic malformation"]},"uk":{"name":"Поширена кістозна лімфатична мальформація","definition":"A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed."},"zh":{"name":"常见的囊性淋巴畸形"},"tr":{"name":"Yaygın kistik lenfatik malformasyon"}},"xrefs":[{"source":"ICD-10","code":"Q28.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"LA90.10","qualifier":"BTNT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"LA90.11","qualifier":"BTNT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"ICD-11","code":"LA90.12","qualifier":"BTNT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"18720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681116","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":2415,"name":"Rare lymphatic malformation","classifications":[147,198]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[{"orpha":79489,"name":"Macrocystic lymphatic malformation","type":"Clinical subtype"},{"orpha":79490,"name":"Microcystic lymphatic malformation","type":"Clinical subtype"},{"orpha":458792,"name":"Mixed macro and microcystic lymphatic malformation","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}