{"orpha":399307,"name":"Idiopathic avascular necrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic AVN"],"definition":"A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399307/","orphanet_url":"https://www.orpha.net/en/disease/detail/399307","names":{"fr":{"name":"Nécrose avasculaire idiopathique","synonyms":["AVN idiopathique"],"definition":"Ostéonécrose rare caractérisée par une nécrose osseuse due à une baisse de l'apport sanguin en l'absence de cause connue. Les os touchés incluent, entre autres, la tête fémorale, le talus, les corps vertébraux, l'humérus et le scaphoïde. Les patients peuvent être initialement asymptomatiques, mais présentent ensuite progressivement des douleurs réfractaires, des oedèmes et une amplitude de mouvements réduite. En l'absence de traitement, la maladie peut progresser vers un collapsus osseux avec, dans un second temps, dégénérescence et fragmentation osseuses, fractures pathologiques et ostéoarthrite."},"de":{"name":"Avaskuläre Nekrose, idiopathische","synonyms":["Idiopathische AVN"],"definition":"Eine seltene Osteonekrose, die durch eine Knochennekrose aufgrund einer gestörten Blutzufuhr bei Fehlen einer bekannten Ursache gekennzeichnet ist. Zu den betroffenen Knochen gehören u. a. der Oberschenkelkopf, das Sprungbein, der Wirbelkörper, der Oberarmknochen und das Kahnbein. Die Patienten können zunächst asymptomatisch sein, aber später mit allmählich auftretenden, refraktären Schmerzen, Schwellungen und eingeschränkter Beweglichkeit auftreten. Bleibt die Erkrankung unbehandelt, kann es zum Zusammenbruch des Knochens mit sekundärer Degeneration, Fragmentierung und pathologischen Frakturen sowie zu Osteoarthritis kommen."},"es":{"name":"Necrosis avascular idiopática","synonyms":["AVN idiopática"],"definition":"Es una osteonecrosis poco frecuente caracterizada por necrosis ósea debido a la interrupción del suministro de sangre en ausencia de una causa conocida. Los huesos afectados incluyen la cabeza femoral, el astrágalo, el cuerpo vertebral, el húmero y el escafoides, entre otros. Los pacientes pueden estar inicialmente asintomáticos, pero posteriormente se presentan con un desarrollo gradual de dolor refractario, edema y reducción del rango normal de movimiento. Sin tratamiento, la afección puede progresar hasta el colapso óseo con degeneración secundaria, fragmentación y fractura patológica, así como osteoartritis."},"it":{"name":"Necrosi avascolare idiopatica","synonyms":["AVN idiopatica"],"definition":"Si tratta di un'osteonecrosi rara, caratterizzata da necrosi dell'osso causata da un'interruzione dell'afflusso del sangue. L'eziologia non è nota. La malattia colpisce diverse ossa, tra le quali la testa del femore, il talo, i corpi vertebrali, l'omero e lo scafoide. Inizialmente i pazienti possono essere asintomatici, ma successivamente presentano dolore refrattario ad esordio graduale, gonfiore e limitazione dei movimenti. Se non trattata, la malattia può progredire fino al collasso dell'osso con degenerazione secondaria, frammentazione, fratture patologiche e osteoartrite."},"nl":{"name":"Idiopathische avasculaire necrose","synonyms":["Idiopathische AVN"],"definition":"Een zeldzame osteonecrose, gekenmerkt door necrose van bot als gevolg van verstoorde bloedvoorziening, in afwezigheid van een gekende oorzaak. Aangetaste botten zijn onder meer femurkop, talus, wervellichaam, humerus, en scafoïd. Patiënten kunnen aanvankelijk asymptomatisch zijn, maar vertonen vervolgens geleidelijk ontwikkelende refractaire pijn, zwelling, en vermindering van bewegingsbereik. Zonder behandeling kan de aandoening evolueren naar collaps van bot met secundaire degeneratie, fragmentatie, en pathologische fractuur, alsook osteoartritis."},"pt":{"name":"Necrose avascular idiopática","definition":"Osteonecrose rara caracterizada por necrose óssea devido à interrupção do suprimento sanguíneo na ausência de uma causa conhecida. Os ossos afetados incluem a cabeça do fémur, tálus, corpo vertebral, úmero e escafoide, entre outros. Os doentes podem inicialmente ser assintomáticos, mas subsequentemente apresentam dor refratária com evolução gradual, edema e diminuição da amplitude do movimento. Se não for tratada, a doença pode evoluir para colapso ósseo com degeneração secundária, fragmentação e fratura patológica, bem como osteoartrite."},"pl":{"name":"Idiopatyczna martwica awaskularna","synonyms":["Idiopatyczna AVN"]},"cs":{"name":"Idiopatická avaskulární nekróza","synonyms":["Idiopatická AVN"]},"uk":{"name":"Ідіопатичний аваскулярний некроз","synonyms":["Ідіопатичний АВН"],"definition":"A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis."},"zh":{"name":"特发性缺血性坏死","synonyms":["特发性AVN"]},"tr":{"name":"İdiyopatik avasküler nekroz","synonyms":["İdyopatik AVN"]}},"xrefs":[{"source":"ICD-10","code":"M87.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"467851106"},{"source":"MONDO","code":"0018380","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1404767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399302,"name":"Primary avascular necrosis","classifications":[196,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}