{"orpha":280779,"name":"Cutaneous collagenous vasculopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CCV"],"definition":"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280779/","orphanet_url":"https://www.orpha.net/en/disease/detail/280779","names":{"fr":{"name":"Vasculopathie cutanée collagène","synonyms":["CCV","VCC"],"definition":"Microangiopathie primaire limitée à la peau, caractérisée par de multiples télangiectasies diffuses."},"de":{"name":"Vaskulopathie, kutane kollagenöse","synonyms":["CCV"],"definition":"Die kutane kollagene Vaskulopathie (CCV) ist eine primäre, auf die Haut beschränkte Mikroangiopathie mit multiplen, ausgedehnten Telangiektasien."},"es":{"name":"Vasculopatía colágena cutánea","synonyms":["VCC"],"definition":"La vasculopatía colágena cutánea (CCV) es una microangiopatía primaria limitada a la piel, que se caracteriza por telangiectasias múltiples y generalizadas."},"it":{"name":"Vasculopatia collagena cutanea","synonyms":["CCV"],"definition":"La vasculopatia collagena cutanea (CCV) è una microangiopatia primitiva limitata alla cute, caratterizzata da telangectasie multiple e diffuse."},"nl":{"name":"Cutane collageneuze vasculopathie","synonyms":["CCV"],"definition":"Cutane collageneuze vasculopathie (CCV) is een primaire microangiopathie die beperkt blijft tot de huid en gekarakteriseerd wordt door meerdere en wijdverspreide teleangiëctasieën."},"pt":{"name":"Vasculopatia colagenosa cutânea","synonyms":["CCV"]},"pl":{"name":"Kolagenowa waskulopatia skórna","synonyms":["CCV"]},"cs":{"name":"Kožní kolagenní vaskulopatie","synonyms":["CCV"]},"uk":{"name":"Шкірна колагенова васкулопатія","synonyms":["CCV"],"definition":"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias."},"zh":{"name":"皮肤胶原血管病","synonyms":["CCV"],"definition":"皮肤胶原性血管病（CCV）是一种局限于皮肤的原发性微血管病变，以多发性、广泛性毛细血管扩张为特征。"},"tr":{"name":"Kutanöz kollajenöz vaskülopati","synonyms":["CCV"]}},"xrefs":[{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"878108553"},{"source":"MONDO","code":"0017242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305323","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"21916964[PMID]_21571177[PMID]_20525488[PMID]_20451292[PMID]_20000878[PMID]_18537865[PMID]_10660131[PMID]_[EXPERT]"},{"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":"2016-06-22","source":"20451292[PMID]_26829992[PMID]_26955587[PMID]","terms":[{"hpo":"HP:0007489","label":"Diffuse telangiectasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"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:0000967","label":"Petechiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007394","label":"Prominent superficial blood vessels","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null}]}}