{"orpha":95429,"name":"Angioma serpiginosum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95429/","orphanet_url":"https://www.orpha.net/en/disease/detail/95429","names":{"fr":{"name":"Angioma serpiginosum","definition":"L'angioma serpiginosum (AS) est une maladie congénitale bénigne de la peau caractérisée par une dilatation progressive des vaisseaux sous-épidermiques qui se manifeste par des lésions ponctuelles apparaissant en général sur les membres inférieurs et les fesses et suivant les lignes de Blaschko."},"de":{"name":"Angioma serpiginosum"},"es":{"name":"Angioma serpiginoso","definition":"Es una enfermedad de la piel congénita y benigna caracterizada por la dilatación progresiva de los vasos cutáneos subepidérmicos que se manifiesta como lesiones punteadas de color púrpura que generalmente aparecen en las extremidades inferiores y las nalgas siguiendo las líneas de Blaschko."},"it":{"name":"Angioma serpiginoso"},"nl":{"name":"Angioma serpiginosum","definition":"Een goedaardige, congenitale huidziekte, gekenmerkt door progressieve dilatatie van subepidermale bloedvaten, wat zich manifesteert als paarse puntvormige laesies die meestal verschijnen op de onderste ledematen en bilstreek en langs de lijnen van Blaschko."},"pt":{"name":"Angioma serpiginoso"},"pl":{"name":"Naczyniak pełzakowaty"},"cs":{"name":"Angioma serpinginosum"},"uk":{"name":"Ангіома серпігінозна","definition":"A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko."},"zh":{"name":"匐行性血管瘤","definition":"一种良性的先天性皮肤病，其特征是表皮下皮肤血管进行性扩张，表现为紫色点状病变，通常出现在下肢和臀部，并沿Blaschko线出现。"},"tr":{"name":"Anjiyo serpiginosum"}},"xrefs":[{"source":"OMIM","code":"106050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300652","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.7","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LC50.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1724787481"},{"source":"MONDO","code":"0019803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263637","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086217","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":211247,"name":"Rare capillary malformation","classifications":[147,198]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17342156[PMID]","terms":[{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007797","label":"Retinal vascular malformation","frequency":"Occasional (29-5%)","criteria":null}]}}