{"orpha":1917,"name":"Fetal methylmercury syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital Minamata disease","Fetal methylmercury poisoning","Intrauterine methylmercury poisoning","Prenatal methylmercury poisoning"],"definition":"A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1917/","orphanet_url":"https://www.orpha.net/en/disease/detail/1917","names":{"fr":{"name":"Embryopathie au méthylmercure","synonyms":["Exposition intrautérine au méthylmercure","Intoxication fétale au méthylmercure","Intoxication prénatale au méthylmercure","Maladie de Minamata congénitale"],"definition":"Embryofoetopathie toxique caractérisée par un groupe de symptômes, y compris une atteinte neurologique non spécifique, pouvant s'observer chez un foetus ou un nouveau-né après exposition de la mère à un excès de méthylmercure au cours de sa grossesse."},"de":{"name":"Methylquecksilber-Embryopathie","synonyms":["Methylquecksilber-Exposition, vorgeburtliche","Methylquecksilber-Vergiftung, pränatale","Minamata-Krankheit, kongenitale","Quecksilber-Exposition, vorgeburtliche"],"definition":"Eine toxische Embryofetopathie, die durch eine Gruppe von Symptomen mit unspezifischer neurologischer Beteiligung gekennzeichnet ist, die bei einem Fötus oder Neugeborenen beobachtet werden kann, wenn die Mutter während der Schwangerschaft übermäßigen Mengen an Methylquecksilber ausgesetzt war."},"es":{"name":"Síndrome del metilmercurio fetal","synonyms":["Enfermedad de Minamata congénita","Intoxicación fetal por metilmercurio","Intoxicación intrauterina por metilmercurio","Intoxicación prenatal por metilmercurio"],"definition":"Es una embriofetopatía tóxica caracterizada por un grupo de síntomas con afectación neurológica inespecífica que puede observarse en un feto o recién nacido cuando la madre estuvo expuesta a concentraciones elevadas de metilmercurio durante el embarazo."},"it":{"name":"Sindrome fetale da metilmercurio","synonyms":["Intossicazione fetale da metilmercurio","Intossicazione intrauterina da metilmercurio","Intossicazione prenatale da metilmercurio","Malattia di Minamata congenita"]},"nl":{"name":"Foetaal methylkwiksyndroom","synonyms":["Congenitale Minamata-ziekte","Foetale intoxicatie door methylkwik","Intra-uteriene intoxicatie door methylkwik","Prenatale intoxicatie door methylkwik"],"definition":"Een toxische embryofoetopathie, gekenmerkt door een groep van symptomen met aspecifieke neurologische betrokkenheid die kunnen waargenomen worden bij een foetus of neonaat wanneer de moeder tijdens de zwangerschap werd blootgesteld aan excessieve hoeveelheden methylkwik."},"pt":{"name":"Síndrome de metilmercúrio fetal","synonyms":["Doença Minamata congénita","Envenenamento fetal por metilmercúrio","Envenenamento intrauterino por metilmercúrio","Envenenamento prénatal por metilmercúrio"],"definition":"Embriofetopatia tóxica caracterizada por um grupo de sintomas com envolvimento neurológico inespecífico que pode ser observado num feto ou recém-nascido quando a mãe foi exposta durante a gravidez a quantidades excessivas de metilmercúrio."},"pl":{"name":"Płodowy zespół metylortęciowy","synonyms":["Choroba Minamata","Prenatalne zatrucie metylortęcią"]},"cs":{"name":"Fetální metylrtuťový syndrom","synonyms":["Nemoc zálivu Minamata"]},"uk":{"name":"Фетальний метилртутний синдром","synonyms":["Вроджена хвороба Мінамата","Отруєння плоду метилртуттю","Внутрішньоутробне отруєння метилртуттю","Пренатальне отруєння метилртуттю"],"definition":"A toxic embryofetopathy characterized by a group of symptoms with unspecific neurologic involvement that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury."},"zh":{"name":"胎儿甲基汞综合征","synonyms":["产前甲基汞感染"]},"tr":{"name":"Fetal metil cıva sendromu","synonyms":["Minamata hastalığı","Metil cıva antenatal enfeksiyon"]}},"xrefs":[{"source":"ICD-10","code":"T56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1975519045"},{"source":"MONDO","code":"0016013","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265376","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3575","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]},{"orpha":251529,"name":"Toxic or drug-related embryofetopathy","classifications":[147,204,216]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"34881051[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}