{"orpha":54251,"name":"Aseptic abscess syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aseptic abscesses syndrome","Aseptic systemic abscesses","Corticosteroid-sensitive aseptic abscess syndrome","Disseminated aseptic abscesses"],"definition":"A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54251/","orphanet_url":"https://www.orpha.net/en/disease/detail/54251","names":{"fr":{"name":"Syndrome des abcès aseptiques corticosensibles","synonyms":["Abcès aseptiques disséminés","Abcès aseptiques systémiques","Syndrome des abcès aseptiques"],"definition":"Maladie auto-inflammatoire rare caractérisée par des accès récurrents de fièvre et des abcès stériles."},"de":{"name":"Aseptisches Abszesssyndrom","synonyms":["Abszesse, aseptische disseminierte","Abszesse, aseptische systemische","Kortikosteroidsensitives aseptisches Abszesssyndrom","Syndrom der aseptischen Abszesse"],"definition":"Eine seltene autoinflammatorische Störung, die durch wiederkehrende Fieberschübe und sterile Abszesse gekennzeichnet ist."},"es":{"name":"Síndrome de absceso estéril","synonyms":["Abscesos estériles diseminados","Abscesos estériles sistémicos","Síndrome de absceso aséptico"],"definition":"Es un trastorno autoinflamatorio poco frecuente caracterizado por ataques recurrentes de fiebre y abscesos estériles."},"it":{"name":"Sindrome ascesso asettico","synonyms":["Ascessi asettici disseminati","Ascessi asettici sensibili ai corticosteroidi","Ascessi asettici sistemici","Sindrome da ascessi asettici"]},"nl":{"name":"Aseptisch abces-syndroom","synonyms":["Aseptische abcessen-syndroom","Aseptische systemische abcessen","Corticosteroïdesensitief aseptisch abces-syndroom","Gedissemineerde aseptische abcessen"],"definition":"Een zeldzame auto-inflammatoire aandoening, gekenmerkt door recidiverende koortsaanvallen en steriele abcessen."},"pt":{"name":"Síndrome de abcesso assético","synonyms":["Abcessos asséticos disseminados","Abcessos asséticos sistémicos","Síndrome de abcessos asséticos","Síndrome de abcessos asséticos cortico-sensíveis"],"definition":"Doença autoinflamatória rara caracterizada por episódios recorrentes de febre e abcessos estéreis."},"pl":{"name":"Aseptyczne ropnie wrażliwe na kortykosteroidy","synonyms":["Aseptyczne ropnie układowe","Rozsiane ropnie układowe","Zespół ropni aseptycznych"]},"cs":{"name":"Syndrom aseptického abscesu senzitivního na kortikosteroidy","synonyms":["Syndrom aseptického abscesu","Aseptické systémové abscesy","Diseminované aseptické abscesy"]},"uk":{"name":"Синдром асептичного абсцесу","synonyms":["Синдром асептичних абсцесів","Асептичні системні абсцеси","Синдром асептичного абсцесу, чутливого до кортикостероїдів","Дисеміновані асептичні абсцеси"],"definition":"A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses."},"zh":{"name":"皮质类固醇-敏感性无菌性脓肿综合征","synonyms":["弥散性无菌性脓肿"]},"tr":{"name":"Kortikosteroide duyarlı aseptik apse sendromu","synonyms":["Aseptik apse sendromu","Aseptik sistemik apseler","Yaygın aseptik apseler"]}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018900","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303863","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10946","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"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":"2016-09-16","source":"17505254[PMID]","terms":[{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030049","label":"Brain abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null}]}}