{"orpha":858,"name":"Congenital toxoplasmosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mother-to-child transmission of toxoplasmosis","Toxoplasma embryofetopathy","Toxoplasma embryopathy"],"definition":"A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by <i>Toxoplasma gondii</i> (Tg).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-858/","orphanet_url":"https://www.orpha.net/en/disease/detail/858","names":{"fr":{"name":"Toxoplasmose congénitale","synonyms":["Embryofoetopathie par infection au toxoplasme","Embryopathie par infection au toxoplasme"],"definition":"Embryo-foetopathie rare, caractérisée par des lésions oculaires, viscérales ou intracrâniennes secondaires à une infection maternelle par <i>Toxoplasma gondii </i>(Tg)."},"de":{"name":"Toxoplasmose, kongenitale","synonyms":["Fetopathia toxoplasmotica","Toxoplasmose durch Mutter-Kind-Übertragung","Toxoplasmose-Embryopathie"],"definition":"Die Kongenitale Toxoplasmose (CTX) ist eine Embryo-Fetopathie und gekennzeichnet durch Läsionen der Augen, der inneren Organe und des Gehirns im Gefolge einer primären Infektion der Mutter mit <I>Toxoplasma gondii</I> (TG)."},"es":{"name":"Toxoplasmosis congénita","synonyms":["Embriofetopatía por toxoplasma","Embriopatía por toxoplasma","Transmisión materna de la toxoplasmosis"],"definition":"Es una embriofetopatía caracterizada por lesiones oculares, viscerales o intracraneales secundarias a una primoinfección materna por <i>Toxoplasma gondii</i> (Tg)."},"it":{"name":"Toxoplasmosi congenita","synonyms":["Embriofetopatia da toxoplasma","Embriopatia da toxoplasma"],"definition":"La toxoplasmosi congenita (CTX) è una fetopatia rara caratterizzata da lesioni oculari, viscerali o intracraniche secondarie ad un'infezione materna primaria da <i>Toxoplasma gondii</i> (Tg)."},"nl":{"name":"Congenitale toxoplasmose","synonyms":["Toxoplasma-embryofoetopathie","Toxoplasma-embryopathie","Transmissie van moeder op kind van toxoplasmose"],"definition":"Een zeldzame foetopathie, gekarakteriseerd door oculaire, viscerale of intracraniale laesies secundair aan maternale primaire infectie door <i>Toxoplasma gondii</i> (Tg)."},"pt":{"name":"Toxoplasmose congénita","synonyms":["Embriopatia por Toxoplasma"],"definition":"A toxoplasmose congénita (CTX) é uma embrio-fetopatia caracterizada por lesões oculares, viscerais ou intracraniana secundárias a primo-infecção materna pelo <i> Toxoplasma gondii </ i> (Tg)."},"pl":{"name":"Toksoplazmoza wrodzona","synonyms":["Embriofetopatia toksoplazmatyczna","Embriopatia toksoplazmatyczna"]},"cs":{"name":"Vrozená toxoplazmóza","synonyms":["Toxoplazmová embryofetopatie","Toxoplazmová embryopatie"]},"uk":{"name":"Вроджений токсоплазмоз","synonyms":["Передача токсоплазмозу від матері до дитини","Токсоплазмова ембріофетопатія","Токсоплазмова ембріопатія"],"definition":"A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by <i>Toxoplasma gondii</i> (Tg)."},"zh":{"name":"先天性弓形虫病","synonyms":["母婴传播型弓形虫病"]},"tr":{"name":"Doğumsal toksoplazmoz","synonyms":["Toksoplazma embriyopatisi","Toksoplazma embriyofetopatisi","Toksoplazmozun anneden çocuğa geçişi"]}},"xrefs":[{"source":"ICD-10","code":"P37.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KA64.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1194018225"},{"source":"MONDO","code":"0005715","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014125","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0040560","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010652","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166490,"name":"Infectious disease with epilepsy","classifications":[181]},{"orpha":232035,"name":"Infectious embryofetopathy","classifications":[147,203,216]},{"orpha":163588,"name":"Rare parasitic disease","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"France","status":"Validated","source":"20587361[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Greece","status":"Validated","source":"23173875[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"United Kingdom","status":"Validated","source":"16547084[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.3,"area":"Sweden","status":"Validated","source":"11561964[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Denmark","status":"Validated","source":"10359408[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"Switzerland","status":"Validated","source":"7597405[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":130.0,"area":"Germany","status":"Validated","source":"23173875[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":113.0,"area":"Poland","status":"Validated","source":"11326012[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Brazil","status":"Validated","source":"22974376[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":138.0,"area":"Italy","status":"Validated","source":"19430667[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":55.0,"area":"United States","status":"Validated","source":"Center for Diseases Control and Prevention[OTHER]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":640.0,"area":"Iran, Islamic Republic of","status":"Validated","source":"31096746[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}