{"orpha":399180,"name":"Secondary non-traumatic avascular necrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Secondary non-traumatic AVN","Secondary non-traumatic osteonecrosis"],"definition":"A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399180/","orphanet_url":"https://www.orpha.net/en/disease/detail/399180","names":{"fr":{"name":"Nécrose avasculaire secondaire non traumatique","synonyms":["AVN secondaire non traumatique","Ostéonécrose secondaire non traumatique"],"definition":"Ostéonécrose rare caractérisée par la mort cellulaire des composants de l'os secondaire à une interruption de l'apport sanguin sous-chondral, se manifestant typiquement par des lésions unilatérales ou bilatérales, unifocales ou multifocales, affectant généralement l'épiphyse, la métaphyse et/ou la diaphyse des têtes fémorales, des genoux, des épaules, des chevilles et/ou des poignets, conduisant à l'apparition progressive de douleurs et à une dégénérescence articulaire entraînant une perte fonctionnelle. Des cas d'association avec une corticothérapie, l'alcoolisme, des accidents de pression hyperbare, une exposition aux radiations ou aux agents cytotoxiques, des hémoglobinopathies et/ou des maladies auto-immunes ou métaboliques sous-jacentes, entre autres, ont été observés."},"de":{"name":"Avaskuläre Nekrose, nicht-traumatische sekundäre","synonyms":["Sekundäre nicht-traumatische AVN","Sekundäre nicht-traumatische Osteonekrose"],"definition":"Eine seltene osteonekrotische Erkrankung, die durch das Absterben zellulärer Komponenten des Knochens infolge einer Unterbrechung der subchondralen Blutversorgung gekennzeichnet ist und sich typischerweise durch ein- oder beidseitige, unifokale oder multifokale Läsionen manifestiert, die sich in der Regel an der Epiphyse, Metaphyse und/oder Diaphyse der Oberschenkelköpfe, Knie, Schultern, Knöchel und/oder Handgelenke befinden und zu einem allmählichen Auftreten von Schmerzen und einer fortschreitenden Gelenkdegeneration mit Funktionsverlust führen. Ein Zusammenhang mit der Einnahme von Kortikosteroiden, Alkoholismus, hyperbaren Ereignissen, Strahlen- oder zytotoxischen Wirkstoffen, Hämoglobinopathien und/oder zugrunde liegenden Autoimmun- oder Stoffwechselerkrankungen wurde beobachtet."},"es":{"name":"Necrosis avascular no traumática secundaria","synonyms":["AVN no traumática secundaria","Osteonecrosis no traumática secundaria"],"definition":"Es una enfermedad de osteonecrosis poco frecuente, caracterizada por la muerte de los componentes celulares óseos secundaria a la interrupción del suministro sanguíneo al hueso subcondral, que se manifiesta típicamente con lesiones aisladas o multifocales, unilaterales o bilaterales, localizadas por lo general en la epífisis, metáfisis y/o diáfisis de las cabezas femorales, las rodillas, los hombros, los tobillos y/o las muñecas, derivando en un inicio de dolor gradual y degeneración articular progresiva que resulta en la pérdida de funcionalidad. Se ha observado una relación entre la enfermedad y el consumo de corticosteroides, alcoholismo, eventos hiperbáricos, exposición a radiación o a agentes citotóxicos, hemoglobinopatías y/o enfermedades autoinmunes o metabólicas subyacentes, entre otros factores."},"it":{"name":"Necrosi secondaria non traumatica avascolare","synonyms":["AVN non traumatica secondaria"],"definition":"È una malattia rara da osteonecrosi, caratterizzata dalla morte delle componenti cellulari dell'osso, secondaria all'interruzione del flusso sanguigno subcondrale. Di solito esordisce con lesioni mono- o bilaterali, mono- o multifocali, in genere localizzate sulle epifisi, sulle metafisi e/o sulle diafisi della testa del femore, sulle ginocchia, sulle spalle e sulle caviglie e/o sui polsi, che esitano nella progressiva insorgenza del dolore e nella degenerazione delle articolazioni, con conseguente perdita della funzionalità. Può essere secondaria all'assunzione di corticosteroidi, all'alcolismo, ad episodi iperbarici, all'esposizione alle radiazioni o agli agenti citotossici, alle emoglobinopatie e/o a preesistenti malattie autoimmuni o metaboliche."},"nl":{"name":"Secundaire niet-traumatische avasculaire necrose","synonyms":["Secundaire niet-traumatische AVN","Secundaire niet-traumatische osteonecrose"],"definition":"Een zeldzame osteonecrose die gekarakteriseerd wordt door afsterven van cellulaire botcomponenten secundair aan een onderbreking van de subchondrale bloedtoevoer, die zich doorgaans manifesteert met uni- of bilaterale, uni- of multifocale letsels, meestal gesitueerd op de epifyse, metafyse en/of diafyse van de femurkoppen, knieën, schouders, enkele en/of polsen, en die leidt tot geleidelijke aanvang van pijn en progressieve degeneratie van gewrichten, met functieverlies tot gevolg. Er werd associatie waargenomen met onder meer gebruik van corticosteroïden, alcoholisme, hyperbare voorvallen, blootstelling aan straling of cytotoxische agentia, hemoglobinopathieën, en/of onderliggende auto-immuunziekte of metabole ziekte."},"pt":{"name":"Necrose avascular secundária não-traumática"},"pl":{"name":"Wtórna martwica awaskularna niezwiązana z urazem","synonyms":["Wtórna AVN"]},"cs":{"name":"Sekundární netraumatická avaskulární nekróza","synonyms":["Sekundární netraumatická AVN"]},"uk":{"name":"Вторинний нетравматичний аваскулярний некроз","synonyms":["Вторинний нетравматичний АВН","Вторинний нетравматичний остеонекроз"],"definition":"A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed."},"zh":{"name":"继发性非缺血性坏死","synonyms":["继发性非创伤性骨坏死"],"definition":"本病是一种罕见的骨坏死疾病，其特征是继发于软骨下血液供应中断的骨细胞成分死亡，通常表现为单侧或双侧、单侧或多灶性损伤，病变常位于股骨头、膝、肩、踝和/或腕的骨骺、干骺端和/或骨干上，导致逐渐发作的疼痛和进行性关节退化并最终引起功能丧失。现已观察到本病与皮质类固醇使用、酒精中毒、高压事件、辐射或细胞毒剂暴露、血红蛋白病和/或潜在的自身免疫或代谢疾病等相关。"},"tr":{"name":"Sekonder travmatik olmayan avasküler nekroz","synonyms":["Sekonder travmatik olmayan AVN","Sekonder travmatik olmayan osteonekroz"]}},"xrefs":[{"source":"ICD-10","code":"M87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB81.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018376","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192430","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399169,"name":"Secondary avascular necrosis","classifications":[196,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-24","source":"19294340[PMID]_18524806[PMID]_9779852[PMID]_3768054[PMID]_8235665[PMID]","terms":[{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003549","label":"Abnormality of connective tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031520","label":"Groin pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Very rare (<4-1%)","criteria":null}]}}