{"orpha":2764,"name":"Osteochondritis dissecans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["König disease"],"definition":"Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2764/","orphanet_url":"https://www.orpha.net/en/disease/detail/2764","names":{"fr":{"name":"Ostéochondrite disséquante","synonyms":["Maladie de König"],"definition":"Maladie osseuse rare caractérisée par une lésion nécrotique idiopathique acquise de l'os sous-chondral avec formation d'un séquestre, qui peut se détacher pour former des corps étrangers dans les articulations. La maladie touche principalement les articulations du genou, de la cheville et du coude et peut entraîner des douleurs, des limitations fonctionnelles et une arthrose secondaire."},"de":{"name":"Osteochondrosis dissecans","synonyms":["König-Krankheit","Osteochondrosis dissecans (König)"]},"es":{"name":"Osteocondritis disecante","synonyms":["Enfermedad de Kônig"],"definition":"Es una enfermedad ósea poco frecuente caracterizada por una lesión necrótica idiopática y adquirida del hueso subcondral, con la formación de un secuestro que puede desprenderse para formar cuerpos libres en las articulaciones. Afecta principalmente a las articulaciones de rodilla, tobillo y codo, pudiendo provocar dolor, limitaciones funcionales y osteoartritis secundaria."},"it":{"name":"Osteocondrite dissecante","synonyms":["Malattia di Kônig"],"definition":"L'osteocondrite dissecante (OCD) è una malattia scheletrica rara, caratterizzata da una lesione necrotica idiopatica acquisita dell'osso subcondrale, associata alla formazione di un sequestro che può staccarsi producendo frammenti liberi all'interno delle articolazioni. L'OCD interessa per lo più le articolazioni delle ginocchia, delle caviglie e dei gomiti, causando dolore, limitazioni funzionali e osteoartrite secondaria."},"nl":{"name":"Osteochondritis dissecans","synonyms":["Ziekte van König"],"definition":"Osteochondritis dissecans (OCD) is een zeldzame botziekte die gekarakteriseerd wordt door een verworven, idiopathische, necrotische laesie van subchondraal bot met vorming van een sekwester, die kan loskomen en losse delen kan vormen in gewrichten. OCD treft voornamelijk de knie-, enkel- en ellebooggewrichten en kan leiden tot pijn, functionele beperkingen en secundaire osteoartritis."},"pt":{"name":"Osteocondrite dissecante"},"pl":{"name":"Oddzielająca martwica kostno-chrzęstna","synonyms":["Choroba Kôniga"]},"cs":{"name":"Osteochondritis dissecans","synonyms":["Königova nemoc"]},"uk":{"name":"Розсікаючий остеохондрит","synonyms":["Хвороба Кеніга"],"definition":"Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis."},"zh":{"name":"剥脱性骨软骨炎","synonyms":["König病"]},"tr":{"name":"Osteokondrit dissekans","synonyms":["König hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"M93.2","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":"0017178","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029421","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12703","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031231","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399158,"name":"Osteonecrosis","classifications":[196,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":35.0,"area":"Europe","status":"Not yet validated","source":"16958015[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-21","source":"34109940[PMID]_28639852[PMID]_21979791[PMID]_16794036[PMID]_30252347[PMID]","terms":[{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011843","label":"Abnormality of skeletal physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000917","label":"Bone marrow edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003184","label":"Decreased hip abduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006376","label":"Limited elbow flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009050","label":"Quadriceps muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}