{"orpha":79489,"name":"Macrocystic lymphatic malformation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cavernous lymphangioma","Cavernous lymphatic malformation","Macrocystic lymphangioma"],"definition":"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79489/","orphanet_url":"https://www.orpha.net/en/disease/detail/79489","names":{"fr":{"name":"Malformation lymphatique macrokystique","synonyms":["Lymphangiome caverneux","Lymphangiome macrokystique","Lymphangiome profond","Malformation lymphatique caverneuse","Malformation lymphatique profonde"],"definition":"Malformation lymphatique kystique commune rare, caractérisée par une lésion kystique bénigne composée de vaisseaux lymphatiques dilatés. Les lésions macrocystiques consistent en des kystes de plus de 1 cm de diamètre. Elles se manifestent généralement à la naissance ou au cours des premières années de vie et se développent le plus souvent dans la région de la tête et du cou, mais peuvent affecter n'importe quelle autre région du corps. Les signes cliniques varient en fonction de la localisation et de l'étendue de la lésion. Les facteurs pouvant contribuer à l'étendue des lésions sont l'infection, le traumatisme et l'hémorragie intrakystique. On observe aucune évolution cancéreuse."},"de":{"name":"Lymphatische Malformation, makrozystische","synonyms":["Kavernöse lymphatische Fehlbildung","Lymphangiom, kavernöses","Lymphangiom, makrozystisches"],"definition":"Eine seltene lymphatische Fehlbildung, die durch eine gutartige zystische Läsion gekennzeichnet ist, die aus erweiterten Lymphkanälen besteht. Makrozystische Läsionen bestehen aus Zysten mit einem Durchmesser von mehr als 1 cm. Sie treten in der Regel bei der Geburt oder in den ersten Lebensjahren auf und kommen am häufigsten in der Kopf- und Halsregion vor, können aber an jeder Stelle auftreten. Die Symptome hängen von der Lage und dem Ausmaß der Läsion ab. Eine Infektion, ein Trauma oder eine intrazystische Blutung können zu einer Ausdehnung der Läsion führen. Eine bösartige Umwandlung findet nicht statt."},"es":{"name":"Malformación linfática macroquística","synonyms":["Linfangioma cavernoso","Linfangioma macroquístico","Malformación linfática cavernosa"],"definition":"Es una malformación linfática quística común poco frecuente caracterizada por una lesión quística benigna compuesta por conductos linfáticos dilatados. Las lesiones macroquísticas consisten en quistes de más de 1 cm de diámetro. Por lo general, se presentan al nacer o durante los primeros años de vida y se localizan con mayor frecuencia en la región de la cabeza y del cuello, aunque pueden afectar a cualquier región anatómica. Los síntomas dependen de la ubicación y extensión de la lesión. La infección, el traumatismo o la hemorragia intraquística pueden provocar la expansión de la lesión, pero ésta no experimenta una transformación maligna."},"it":{"name":"Malformazione linfatica macrocistica","synonyms":["Linfangioma cavernoso","Linfangioma macrocistico","Malformazione linfatica cavernosa"],"definition":"Si tratta di una malformazione linfatica cistica rara, caratterizzata da una lesione cistica benigna composta da canali linfatici dilatati. Le lesioni macrocistiche hanno un diametro superiore a 1 cm. Di solito sono congenite oppure si manifestano nei primi anni di vita, e si localizzano prevalentemente sulla testa e sul collo, ma possono interessare qualsiasi regione. I sintomi dipendono dalla localizzazione e dalle dimensioni della lesione. Le infezioni, i traumi e le emorragie intracistiche possono causare l'espansione delle lesioni. Non si associano ad evoluzione maligna."},"nl":{"name":"Macrocystische lymfatische malformatie","synonyms":["Macrocysteuze lymfatische malformatie","Macrocysteus lymfangioom","Caverneus lymfangioom","Caverneuze lymfatische malformatie","Macrocystisch lymfangioom"],"definition":"Een zeldzame gewone cystische lymfatische malformatie, gekarakteriseerd door een goedaardige cystische laesie bestaande uit gedilateerde lymfevaten. Macrocystische laesies bestaan uit cysten met een diameter groter dan 1 cm. Ze verschijnen meestal bij de geboorte of tijdens de eerste levensjaren en komen het vaakst voor ter hoogte van hoofd en nek, maar kunnen om het even welk gebied treffen. Symptomen zijn afhankelijk van de locatie en de omvang van de laesie. Infectie, trauma, of intracystische hemorragie kan leiden tot expansie van de laesie. Maligne transformatie komt niet voor."},"pt":{"name":"Malformação linfática macroquística"},"pl":{"name":"Malformacja limfatyczna makrotorbielowata","synonyms":["Jamista malformacja limfatyczna","Macrocystic lymphangioma","Naczyniak limfatyczny jamisty"]},"cs":{"name":"Makrocystická lymfatická malformace","synonyms":["Kavernózní lymfangiom","Kavernózní lymfatická malformace","Makrocystický lymfangiom"]},"uk":{"name":"Макрокістозна лімфатична мальформація","synonyms":["Кавернозна лімфангіома","Кавернозна лімфатична мальформація","Макрокістозна лімфангіома"],"definition":"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur."},"zh":{"name":"海绵状淋巴管畸形","synonyms":["海绵状淋巴管畸形"]},"tr":{"name":"Makrokistik lenfatik malformasyon","synonyms":["Kavernöz lenfanjiyom","Makrokistik lenfanjiyom","Kavernöz lenfatik malformasyon"]}},"xrefs":[{"source":"ICD-10","code":"D18.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1525487462"},{"source":"MONDO","code":"0019328","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205828","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79486,"name":"Cystic hygroma","status":"inactive"},{"type":"Referred to","orpha":217410,"name":"OBSOLETE: Circumscribed lymphatic malformation","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":458833,"name":"Isolated lymphatic malformation","classifications":[147,156,198,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}