{"orpha":391673,"name":"Necrotizing enterocolitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391673/","orphanet_url":"https://www.orpha.net/en/disease/detail/391673","names":{"fr":{"name":"Entérocolite nécrosante","definition":"Maladie intestinale rare caractérisée par une nécrose intestinale inflammatoire touchant principalement les nouveau-nés prématurés et mettant potentiellement le pronostic vital en jeu. Les patients peuvent présenter une intolérance alimentaire, une léthargie, une instabilité de la température, une distension abdominale, du sang visible dans les selles, une diarrhée, des vomissements bilieux, une apnée et des signes de septicémie. Les radiographies mettent en évidence une pneumatose kystique intestinale, une aéroportie, les anses intestinales fixes et dilatées, un oedème de la paroi intestinale et (en cas de perforation intestinale) un pneumopéritoine."},"de":{"name":"Nekrotisierende Enterokolitis","definition":"Eine seltene Darmerkrankung, die durch eine potenziell lebensbedrohliche entzündliche Darmnekrose gekennzeichnet ist, von der vor allem Frühgeborene betroffen sind. Die Patienten können sich mit Fütterungsunverträglichkeit, Lethargie, instabiler Temperatur, abdominaler Distension, blutigem Stuhl, Durchfall, galligem Erbrechen, Apnoe und Anzeichen einer Sepsis vorstellen. Zu den radiologischen Merkmalen gehören Pneumatosis intestinalis, portalvenöses Gas, das Vorhandensein fixierter, erweiterter Darmschlingen, Darmwandödeme und (im Falle einer Darmperforation) Pneumoperitoneum."},"es":{"name":"Enterocolitis necrotizante","definition":"Es una enfermedad intestinal poco frecuente caracterizada por necrosis inflamatoria intestinal potencialmente mortal que afecta predominantemente a neonatos prematuros. Los pacientes se pueden presentar con intolerancia alimentaria, letargia, inestabilidad de la temperatura corporal, distensión abdominal, heces manchadas de sangre, diarrea, vómitos biliosos, apnea y signos de sepsis. Las características radiográficas incluyen neumatosis intestinal, gas venoso portal, presencia de asas intestinales dilatadas y fijas, edema de la pared intestinal y (en el caso de perforación intestinal) neumoperitoneo."},"it":{"name":"Enterocolite necrotizzante","definition":"Si tratta di una malattia rara dell'intestino, caratterizzata da necrosi infiammatoria potenzialmente letale che colpisce prevalentemente i neonati pretermine. I pazienti presentano intolleranza alimentare, letargia, instabilità della temperatura, distensione addominale, sangue nelle feci, diarrea, vomito biliare, apnea e sepsi. Le radiografie evidenziano pneumatosi intestinale, gas nella vena porta, anse intestinali fisse e dilatate, edema della parete intestinale e, in presenza di perforazione intestinale, pneumoperitoneo."},"nl":{"name":"Necrotiserende enterocolitis","definition":"Een zeldzame aandoening van darm, gekarakteriseerd door potentieel levensbedreigende inflammatoire necrose van darm die vooral premature neonaten treft. Patiënten kunnen zich presenteren met voedselintolerantie, lethargie, instabiele lichaamstemperatuur, gezwollen abdomen, bloed in stoelgang, diarree, galbraken, apneu, en verschijnselen van sepsis. Radiografische kenmerken zijn onder meer pneumatosis intestinalis, accumulatie van gas in poortader, aanwezigheid van gefixeerde, gedilateerde darmlissen, oedeem van darmwand, en (in geval van darmperforatie) pneumoperitoneum."},"pt":{"name":"Enterocolite necrotizante"},"pl":{"name":"Martwicze zapalenie jelit"},"cs":{"name":"Nekrotizující enterokolitida"},"uk":{"name":"Некротичний ентероколіт","definition":"A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of sepsis. Radiographic features include pneumatosis intestinalis, portal venous gas, presence of fixed, dilated intestinal loops, bowel wall edema, and (in case of bowel perforation) pneumoperitoneum."},"zh":{"name":"坏死性小肠结肠炎"},"tr":{"name":"Nekrotizan enterokolit"}},"xrefs":[{"source":"ICD-10","code":"P77","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KB88","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"141267925"},{"source":"MONDO","code":"0005313","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020345","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0520459","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.0,"area":"Worldwide","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-17","source":"30793842[PMID]_30691547[PMID]_29196510[PMID]_30020729[PMID]","terms":[{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030144","label":"Hypoactive bowel sounds","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032545","label":"Abdominal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011014","label":"Abnormal glucose homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031273","label":"Shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}