{"orpha":98825,"name":"Unclassified myelodysplastic/myeloproliferative disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Unclassified mixed myelodysplastic/myeloproliferatic syndrome"],"definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98825/","orphanet_url":"https://www.orpha.net/en/disease/detail/98825","names":{"fr":{"name":"Maladie myélodysplasique/myéloproliférative non classée","synonyms":["Syndrome myélodysplasique/myéloprolifératif mixte non-classé"],"definition":"Néoplasme myélodysplasique/myéloproliférative rare caractérisé à son apparition par des signes cliniques et critères biologiques et morphologiques caractéristiques à la fois du syndrome myélodysplasique et du néoplasme myéloprolifératif, en l'absence de traitement récent par facteurs cytotoxiques ou facteurs de croissance, et en l'absence de chromosome Philadelphie, de fusion BCR-ABL1 ou PCM1-JAK2, et de réarrangement de PDGFRA, PDGFRB ou FGFR1. Les cas de néoplasme myéloprolifératif bien définis, présentant des caractéristiques dysplasiques, sont exclus, et les critères de tout autre néoplasme myélodysplasique/myéloprolifératif, syndrome myélodysplasique ou néoplasme myéloprolifératif ne sont pas remplis."},"de":{"name":"Myeloproliferative/Myelodysplastische Krankheit, nicht-klassifizierbare","synonyms":["Myeloproliferativen/Myelodysplastischen Krankheiten, nicht-klassifizierbare Mischformen"],"definition":"Eine seltene myelodysplastische/myeloproliferative Neoplasie, die zu Beginn der Erkrankung klinische, laborchemische und morphologische Merkmale sowohl des myelodysplastischen Syndroms als auch der myeloproliferativen Neoplasie aufweist, ohne vorherige zytotoxische oder Wachstumsfaktortherapie und ohne Vorliegen eines Philadelphia-Chromosoms, einer BCR-ABL1- oder PCM1-JAK2-Fusion oder eines Rearrangements von PDGFRA, PDGFRB oder FGFR1. Ausgeschlossen sind Fälle einer zuvor gut definierten myeloproliferativen Neoplasie, die dysplastische Merkmale entwickelt und die Kriterien einer anderen myelodysplastischen/myeloproliferativen Neoplasie, eines myelodysplastischen Syndroms oder einer myeloproliferativen Neoplasie nicht erfüllt."},"es":{"name":"Enfermedad mielodisplásica/mieloproliferativa no clasificada","synonyms":["Síndrome mixto mielodisplásico/mieloproliferativo no clasificado"],"definition":"Es una neoplasia mielodisplásica/mieloproliferativa poco frecuente caracterizada por los hallazgos clínicos, de laboratorio y morfológicos iniciales típicos del síndrome mielodisplásico y de la neoplasia mieloproliferativa, en ausencia de una terapia citotóxica o con factores de crecimiento reciente y sin cromosoma Filadelfia, fusiones de BCR-ABL1 o PCM1-JAK2, o reordenamientos de PDGFRA, PDGFRB o FGFR1. Se excluyen los casos de neoplasias mieloproliferativas previamente bien definidas que desarrollen características displásicas. No se cumplen los criterios diagnósticos para cualquier otra neoplasia mielodisplásica/mieloproliferativa, síndrome mielodisplásico o neoplasia mieloproliferativa."},"it":{"name":"Malattia mieloproliferativa/mielodisplastica non classificabile","synonyms":["Sindrome mista mieloproliferativa/mielodisplastica non classificata"],"definition":"Si tratta di una neoplasia mielodisplastica/mieloproliferativa rara, con caratteristiche cliniche, morfologiche e di laboratorio tipiche sia della sindrome mielodisplastica che della neoplasia mieloproliferativa all'esordio, in assenza di una recente terapia citotossica o con fattore di crescita, e in assenza del cromosoma Philadelphia, di una fusione tra BCR-ABL1 o PCM1-JAK2, e di riarrangiamenti di PDGFRA, PDGFRB o FGFR1. Sono esclusi i pazienti con una precedente neoplasia mieloproliferativa definita con caratteristiche displastiche; non sono soddisfatti i criteri per le altre neoplasie mielodisplastiche/mieloproliferative, per le sindromi mielodisplastiche e le neoplasie mieloproliferative."},"nl":{"name":"Niet-geclassificeerde myelodysplastische/myeloproliferatieve ziekte","synonyms":["Niet-geclassificeerd gemengd myelodysplastisch/myeloproliferatisch syndroom"],"definition":"Een zeldzaam myelodysplastisch/myeloproliferatief neoplasma, gekarakteriseerd door laboratoriumbevindingen en klinische en morfologische kenmerken van zowel myelodysplastisch syndroom als myeloproliferatief neoplasma bij aanvang, in afwezigheid van recente cytotoxische therapie of therapie met groeifactoren, en zonder Philadelphia-chromosoom, fusie van BCR-ABL1 of PCM1-JAK2, of herschikking van PDGFRA, PDGFRB of FGFR1. Gevallen van een eerder goed gedefinieerd myeloproliferatief neoplasma dat dysplastische kenmerken ontwikkelt, worden uitgesloten, en er wordt niet voldaan aan de criteria voor andere vormen van myelodysplastisch/myeloproliferatief neoplasma, myelodysplastisch syndroom, of myeloproliferatief neoplasma."},"pt":{"name":"Doença mielodisplásica/mieloproliferativa, não classificada"},"pl":{"name":"Niesklasyfikowana choroba mielodysplastyczna/mieloproliferacyjna","synonyms":["Niesklasyfikowany mieszany zespół mielodysplastyczny/mieloproliferacyjny"]},"cs":{"name":"Neklasifikovaná myelodysplastická/myeloproliferativní nemoc","synonyms":["Neklasifikovaný smíšený myelodysplatický/myeloproliferativní syndrom"]},"uk":{"name":"Некласифіковане мієлодиспластичне/мієлопроліферативне захворювання","synonyms":["Некласифікований змішаний мієлодиспластичний/мієлопроліферативний синдром"],"definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met."},"zh":{"name":"未分类骨髓增生异常/骨髓增殖性疾病","synonyms":["未分类的混合型骨髓增生异常/骨髓增生综合征"]},"tr":{"name":"Sınıflandırılmamış miyelodisplastik/miyeloproliferatif hastalık","synonyms":["Sınıflandırılmamış karma miyelodisplastik/miyeloproliferatik sendrom"]}},"xrefs":[{"source":"ICD-10","code":"C94.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A44","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"855969668"},{"source":"MONDO","code":"0020313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1328061","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98275,"name":"Myelodysplastic/myeloproliferative disease","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}