{"orpha":137577,"name":"Neonatal hypoxic and ischemic brain injury","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HIE","Hypoxic and ischemic brain injury in the newborn","Hypoxic-ischemic encephalopathy","Perinatal hypoxia"],"definition":"A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137577/","orphanet_url":"https://www.orpha.net/en/disease/detail/137577","names":{"fr":{"name":"Lésion cérébrale ischémique et hypoxique néonatale","synonyms":["Encéphalopathie hypoxique-ischémique","Hypoxie périnatale","Lésion cérébrale ischémique et hypoxique du nouveau-né"],"definition":"Encéphalopathie néonatale rare caractérisée par des altérations de l'état mental oscillant entre l'irritabilité et une diminution de la réactivité et le coma, ainsi que par des réflexes primitifs anormaux, une hypotonie, des crises convulsives et des difficultés à s'alimenter et à respirer, les symptômes apparaissant dans les premières heures de la vie. La maladie est associée à une létalité élevée. Les séquelles à long terme incluent de nombreux signes cliniques et symptômes, notamment des troubles du comportement, un retard du développement, des difficultés d'apprentissage, une déficience cognitive, des crises convulsives, un dysfonctionnement visuel et auditif et une paralysie cérébrale."},"de":{"name":"Hypoxische und ischämische Hirnverletzung des Neugeborenen","synonyms":["HIE","Hypoxisch-ischämische Enzephalopathie","Hypoxische und ischämische Hirnschäden bei Neugeborenen","Perinatale Hypoxie"],"definition":"Eine neonatale Enzephalopathie, die durch Veränderungen des mentalen Status gekennzeichnet ist, die von Reizbarkeit und verminderter Reaktionsfähigkeit bis hin zum Koma reichen. Weitere Merkmale sind abnormale frühkindliche Reflexe, Hypotonie, Krampfanfälle und Anomalien bei der Nahrungsaufnahme und Atmung, die innerhalb der ersten Lebensstunden auftreten. Die Erkrankung ist mit einer hohen Sterblichkeit verbunden. Die Langzeitfolgen umfassen Verhaltensstörungen, Entwicklungsverzögerungen, Lernbehinderungen, kognitive Beeinträchtigungen, Krampfanfälle, Seh- und Hörstörungen und Zerebralparese."},"es":{"name":"Lesión hipóxico-isquémica cerebral neonatal","synonyms":["EHI","Encefalopatía hipóxico-isquémica","Hipoxia perinatal"],"definition":"Es una encefalopatía neonatal poco frecuente caracterizada por alteración del estado mental que incluye desde irritabilidad y disminución de la capacidad de respuesta hasta coma, así como reflejos primarios anómalos, hipotonía, crisis y trastornos de la alimentación y la respiración que comienzan en las primeras horas de vida. La condición está asociada con una elevada mortalidad. Las secuelas a largo plazo incluyen un espectro de signos y síntomas que incluyen déficits conductuales, retraso del desarrollo, problemas de aprendizaje, afectación cognitiva, crisis, disfunción visual y auditiva y parálisis cerebral."},"it":{"name":"Danno cerebrale neonatale ipossico e ischemico","synonyms":["Danno cerebrale ipossico e ischemico nel neonato","Encefalopatia ipossico-ischemica","HIE","Ipossia perinatale"],"definition":"Si tratta di un'encefalopatia neonatale rara, caratterizzata da alterazioni dello stato mentale (irritabilità, scarsa risposta agli stimoli, coma), anomalie dei riflessi primitivi, ipotonia, crisi epilettiche e anomalie dell'alimentazione e della respirazione, che esordiscono nelle prime ore di vita. La malattia si associa ad un'elevata mortalità. Le sequele a lungo termine comprendono le anomalie del comportamento, il ritardo dello sviluppo, le difficoltà di apprendimento, il deficit cognitivo, le crisi epilettiche, la disfunzione visiva e uditiva e la paralisi cerebrale."},"nl":{"name":"Neonataal hypoxisch en ischemisch hersenletsel","synonyms":["HIE","Hypoxisch en ischemisch hersenletsel bij neonaat","Hypoxisch-ischemische encefalopathie","Perinatale hypoxie"],"definition":"Een zeldzame neonatale encefalopathie, gekarakteriseerd door veranderingen van mentale status gaande van prikkelbaarheid en verminderde reactiviteit tot coma, alsook abnormale primitieve reflexen, hypotonie, insulten, en afwijkingen van voeding en respiratie, met aanvang in de eerste uren na de geboorte. De aandoening is geassocieerd met hoge mortaliteit. Restverschijnselen op lange termijn zijn onder meer een spectrum van verschijnselen en symptomen waaronder gedragsstoornissen, ontwikkelingsachterstand, leerstoornissen, cognitieve functiestoornis, insulten, visuele en auditieve disfunctie, en cerebrale parese."},"pt":{"name":"Lesão cerebral hipóxico-isquémica neonatal","synonyms":["Encefalopatia hipóxico-isquémica","HIE","Hipóxia perinatal","Lesão cerebral hipóxico-isquémica do recém-nascido"]},"pl":{"name":"Uszkodzenie mózgu noworodka z powodu niedotlenienia i niedokrwienia","synonyms":["Encefalopatia niedotleniowo-niedokrwienna","HIE","Hipoksja okołoporodowa","Niedotlenienie okołoporodowe","Niedotlenieniowe i niedokrwienne uszkodzenie mózgu noworodków","Noworodkowe uszkodzenie mózgu wskutek niedotlenienia i niedokrwienia"]},"cs":{"name":"Hypoxicko-ischemická encefalopatie","synonyms":["HIE","Novorozenecká hypoxie a ischemické poškození mozku","Hypoxicko-ischemické postižení mozku u novorozence"]},"uk":{"name":"Неонатальна гіпоксична та ішемічна травма головного мозку","synonyms":["HIE","Гіпоксичне та ішемічне ураження головного мозку у новонароджених","Гіпоксично-ішемічна енцефалопатія","Перинатальна гіпоксія"],"definition":"A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy."},"zh":{"name":"新生儿缺氧缺血性脑损伤","synonyms":["新生儿缺血缺氧性脑病"],"definition":"新生儿缺氧缺血性脑损伤是一种罕见的新生儿脑病，其特征为精神状态的改变，包括烦躁不安、反应减弱甚至昏迷，以及异常的原始反射、张力减退、癫痫、喂养和呼吸异常，发病时间在出生后的最初几个小时内。这种情况与高死亡率相关。长期后遗症包括一系列体征和症状，包括行为缺陷、发育迟缓、学习障碍、认知障碍、癫痫、视觉和听觉功能障碍以及脑瘫。"},"tr":{"name":"Yenidoğan hipoksik ve iskemik beyin hasarı","synonyms":["HIE","Perinatal hipoksi","Perinatal asfiksi","Hipoksik iskemik ensefalopati","Yenidoğanda hipoksik ve iskemik beyin hasarı"]}},"xrefs":[{"source":"ICD-10","code":"P91.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KB04","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1281282034"},{"source":"UMLS","code":"C5575064","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19875","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":null}