{"orpha":2123,"name":"Multifocal infantile hemangioma with extracutenous involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse neonatal hemangiomatosis","Multifocal infantile haemangioma with extracutenous involvement"],"definition":"Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2123/","orphanet_url":"https://www.orpha.net/en/disease/detail/2123","names":{"fr":{"name":"Hémangiome multifocal infantile avec atteinte extracutanée","synonyms":["Angiomatose miliaire","Hémangiomatose disséminée","Hémangiomatose néonatale diffuse"],"definition":"Tumeur vasculaire rare d'origine inconnue caractérisée par des hémangiomes cutanés multiples, progressifs et à croissance rapide (par exemple sur le cuir chevelu, le visage, le tronc et les extrémités) associés à des hémangiomes viscéraux généralisés, situés dans le foie, les poumons, le tractus gastro-intestinal, le cerveau et les méninges."},"de":{"name":"Multifokales infantiles Hämangiom mit extrakutaner Beteiligung","synonyms":["Hämangiomatose, diffuse neonatale"],"definition":"Die Diffuse neonatale Hämangiomatose ist ein seltener Gefäßtumor mit unbekannter Ursache. Kennzeichen sind multiple, progressive, schnell wachsende kutane Hämangiome (z.B. an Kopfhaut, Gesicht, Stamm und Extremitäten) in Verbindung mit ausgedehnten Hämangiomen der inneren Organe (Leber, Lunge, Magendarmtrakt, Gehirn, Meningen)."},"es":{"name":"Hemangioma infantil multifocal con afectación extracutánea","synonyms":["Hemangiomatosis neonatal difusa"],"definition":"La hemangiomatosis neonatal difusa es un tumor vascular raro de origen desconocido que se caracteriza por un crecimiento múltiple, progresivo y rápido de hemangiomas cutáneos (p.e. en el cráneo, la cara, el tronco y las extremidades) asociado con hemangiomas viscerales extendidos en el hígado, pulmones, aparato digestivo, cerebro y meninges."},"it":{"name":"Emangioma infantile multifocale con coinvolgimento extracutaneo","synonyms":["Emangiomatosi neonatale diffusa"],"definition":"L'emangiomatosi neonatale diffusa è un tumore vascolare raro di origine sconosciuta caratterizzato da emangiomi cutanei multipli, progressivi, a crescita rapida (sul cuoio capelluto, il viso, il torace e le estremità) associati a emangiomi viscerali diffusi nel fegato, nei polmoni, nel tratto gastrointestinale, nel cervello e nelle meningi."},"nl":{"name":"Multifocaal infantiel hemangioom met extracutane betrokkenheid","synonyms":["Diffuse neonatale hemangiomatose"],"definition":"Een zeldzame vasculaire tumor van ongekende oorsprong, gekenmerkt door multipele, progressieve, snelgroeiende cutane hemangiomen (onder meer op scalp, aangezicht, romp en extremiteiten) geassocieerd met wijdverspreide viscerale hemangiomen in lever, long, maag-darmstelsel, hersenen, en hersenvliezen."},"pt":{"name":"Hemangiomatose difusa neonatal"},"pl":{"name":"Rozlana niemowlęca hemangiomatoza","synonyms":["Diffuse neonatal hemangiomatosis","Multifocal infantile haemangioma with extracutenous involvement"]},"cs":{"name":"Difuzní neonatální hemangiomatóza","synonyms":["Diffuse neonatal hemangiomatosis","Multifocal infantile haemangioma with extracutenous involvement"]},"uk":{"name":"Мультифокальна дитяча гемангіома з екстракутанним ураженням","synonyms":["Дифузний неонатальний гемангіоматоз"],"definition":"Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges."},"zh":{"name":"弥漫性新生儿血管瘤病"},"tr":{"name":"Yaygın yenidoğan hemanjiyomatoz"}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2E81.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1311440988"},{"source":"MONDO","code":"0016237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0474965","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1861","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":210589,"name":"Rare infantile hemangioma","classifications":[147,198,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007461","label":"Hemangiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null}]}}