{"orpha":254693,"name":"Partial hydatidiform mole","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Incomplete hydatidiform mole","Incomplete molar pregnancy","Partial molar pregnancy"],"definition":"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254693/","orphanet_url":"https://www.orpha.net/en/disease/detail/254693","names":{"fr":{"name":"Môle hydatiforme partielle","synonyms":["Grossesse môlaire incomplète","Grossesse môlaire partielle","Môle hydatiforme incomplète"],"definition":"Forme de môle hydatiforme caractérisée par des trophoblastes hyperplasiques et des villosités hydropiques anormaux, dus à la fertilisation d'un ovocyte normal par deux spermatozoïdes ou un spermatozoïde anormal (permettant un certain développement foetal), et qui se manifeste par une hémorragie vaginale associée à des nausées, de fréquents vomissements, une hyperémèse gravidique, une hyperthyroïdie et un risque d'avortement spontané."},"de":{"name":"Mole, hydatiforme partielle","synonyms":["Blasenmole, inkomplette"],"definition":"Eine Form der hydatiformen Mole, die durch abnorme hyperplastische Trophoblasten und hydrophile Zotten infolge der Befruchtung einer normalen Eizelle durch zwei Spermien oder ein abnormales Spermium (das eine gewisse fetale Entwicklung ermöglicht) gekennzeichnet ist und sich durch vaginale Blutungen mit Übelkeit und häufigem Erbrechen, Hyperemesis gravidarum, Hyperthyreose und dem Risiko einer spontanen Fehlgeburt manifestiert."},"es":{"name":"Mola hidatidiforme parcial","synonyms":["Embarazo molar incompleto","Embarazo molar parcial","Mola hidatidiforme incompleta"],"definition":"Es una forma de mola hidatiforme caracterizada por trofoblastos hiperplásicos anómalos y vellosidades hidrópicas debidas a la fecundación de un ovocito normal por dos espermatozoides o por un espermatozoide anómalo (que permite cierto desarrollo fetal), y que se manifiesta con hemorragias vaginales acompañadas de náuseas y vómitos frecuentes, hiperémesis gravídica, hipertiroidismo y riesgo de aborto espontáneo."},"it":{"name":"Mola idatiforme parziale","synonyms":["Gravidanza molare incompleta","Gravidanza molare parziale","Mola idatiforme incompleta"],"definition":"La mola idatiforme parziale è una forma di mola idatiforme (si veda questo termine), caratterizzata da iperplasia del trofoblasto e villi coriali idropici. È secondaria alla fecondazione di un ovocita normale da parte di uno o due spermatozoi anomali (che comunque consente un qualche sviluppo fetale). Si manifesta con un'emorragia vaginale, associata a nausea e vomito frequente, iperemesi gravidica, rischio di aborto spontaneo e ipertiroidismo."},"nl":{"name":"Partiële mola hydatidosa","synonyms":["Incomplete mola hydatidosa","Partiële mola-zwangerschap","Partiële molaire zwangerschap","Partiële molazwangerschap"],"definition":"Een vorm van mola hydatidosa, gekenmerkt door abnormale hyperplastische trofoblasten en hydropische villi ten gevolge van bevruchting van een normale oöcyt door twee spermacellen of door één abnormale spermacel (zodat enige foetale ontwikkeling mogelijk is), en zich manifesterend met vaginale bloeding vergezeld van misselijkheid en frequent braken, hyperemesis gravidarum, hyperthyreoïdie, en risico op spontaan miskraam."},"pt":{"name":"Mola hidatiforme parcial","synonyms":["Gravidez molar parcial"],"definition":"Forma de mola hidatiforme caracterizada por trofoblastos hiperplásicos anómalos e vilosidades hidrópicas devido à fertilização de um ovócito normal por dois espermatozóides ou um espermatozóide anómalo (permitindo algum desenvolvimento fetal), e que se manifesta através de sangramento vaginal acompanhado de náuseas e vómitos frequentes, hiperemese gravídica, hipertiroidismo e risco de aborto espontâneo."},"pl":{"name":"Częściowy zaśniad groniasty","synonyms":["Incomplete hydatidiform mole","Incomplete molar pregnancy","Partial molar pregnancy"],"definition":"Postać zaśniadu groniastego, która charakteryzuje się obecnością nieprawidłowych hiperplastycznych komórek trofoblastu oraz obrzękniętych kosmków w wyniku zapłodnienia prawidłowej komórki jajowej przez dwa plemniki lub jeden nieprawidłowy plemnik (co pozwala na pewien stopień rozwoju płodu) i objawia się krwawieniem z pochwy, z towarzyszącymi nudnościami i uporczywymi wymiotami, niepowściągliwymi wymiotami ciężarnych, nadczynnością tarczycy i ryzykiem samoistnego poronienia."},"cs":{"name":"Parciální hydatidiformní mola","synonyms":["Nekompletní hydatidiformní mola","Nekompletní molární těhotenství","Parciální molární těhotenství"]},"uk":{"name":"Часткова гідратоподібна родимка","synonyms":["Неповна гідратоподібна родимка","Неповна молярна вагітність","Часткова молярна вагітність"],"definition":"A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage."},"zh":{"name":"部分性葡萄胎","synonyms":["不完全性葡萄胎"],"definition":"部分性葡萄胎是葡萄胎(见该词条)的一种类型，其特征是正常卵细胞与两个或一个异常精子受精而形成的异常增生的滋养细胞和水肿的绒毛(允许某些胎儿发育)，表现为阴道出血并伴有恶心和频繁呕吐、妊娠剧吐、甲状腺机能亢进和自然流产的风险。"},"tr":{"name":"Kısmi hidatidiform mol","synonyms":["Kısmi molar gebelik","Eksik molar gebelik","Eksik hidatidiform mol"]}},"xrefs":[{"source":"ICD-10","code":"O01.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"JA02.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"714020909"},{"source":"MONDO","code":"0016786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334529","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":99927,"name":"Hydatidiform mole","classifications":[202,205]}],"children":[],"genes":[{"symbol":"KHDC3L","name":"KH domain containing 3 like, subcortical maternal complex member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24533231[PMID]","hgnc":"33699","ensembl":"ENSG00000203908","omim":"611687","loci":["6q13"]},{"symbol":"NLRP7","name":"NLR family pyrin domain containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19246479[PMID]_24533231[PMID]","hgnc":"22947","ensembl":"ENSG00000167634","omim":"609661","loci":["19q13.42"]}],"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":null}