{"orpha":398063,"name":"Refractory celiac disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Refractory CD","Refractory sprue"],"definition":"Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398063/","orphanet_url":"https://www.orpha.net/en/disease/detail/398063","names":{"fr":{"name":"Maladie coeliaque réfractaire","synonyms":["Sprue réfractaire"],"definition":"Une maladie intestinale rare caractérisée par la persistance ou la récurrence des symptômes et signes d'une maladie coeliaque confirmée, malgré un régime alimentaire strict sans gluten pris sur le long terme. Il n'y a pas d'autre cause d'atrophie villeuse ou de complication maligne associée. Des lymphocytes intraépithéliaux anormaux élevés peuvent être présents."},"de":{"name":"Refraktäre Zöliakie","synonyms":["Refraktäre CD","Refraktäre Sprue"],"definition":"Die refraktäre Zöliakie ist eine seltene Darmerkrankung, die durch persistierende oder rezidivierende Symptome und Anzeichen einer bestätigten Zöliakie trotz einer langfristigen, strikten glutenfreien Diät gekennzeichnet ist, ohne dass andere Ursachen für eine Zottenatrophie oder bösartige Komplikationen vorliegen und mit oder ohne Vorhandensein erhöhter abnormaler intraepitelialer Lymphozyten."},"es":{"name":"Enfermedad celíaca refractaria","synonyms":["CD refractaria","EC refractaria","Esprúe refractario"],"definition":"Es una enfermedad intestinal poco frecuente caracterizada por síntomas y signos de enfermedad celíaca, persistentes o recurrentes, a pesar de llevar una dieta estricta sin gluten de forma prolongada, en ausencia de otras causas de atrofia vellositaria o complicaciones neoplásicas y con/sin aumento de linfocitos intraepiteliales anómalos."},"it":{"name":"Celiachia refrattaria","synonyms":["CD refrattaria","Sprue refrattaria"],"definition":"La celiachia refrattaria è una malattia intestinale rara, caratterizzata dai segni clinici persistenti o ricorrenti della celiachia accertata, nonostante la dieta a lungo termine rigorosamente priva di glutine, in assenza di altre cause di atrofia dei villi o di complicanze maligne, e in presenza o senza un aumento dei linfociti intraepiteliali."},"nl":{"name":"Refractaire coeliakie","synonyms":["Refractaire CD","Refractaire spruw"],"definition":"Refractaire coeliakie is een zeldzame darmziekte die wordt gekarakteriseerd door aanhoudende of terugkerende symptomen en tekenen van bevestigde coeliakie ondanks een langdurig, strikt, glutenvrij dieet, in afwezigheid van andere oorzaken van villusatrofie of maligne complicaties, en met of zonder aanwezigheid van een verhoogd aantal abnormale intra-epitheliale lymfocyten."},"pt":{"name":"Doença celíaca refractária"},"pl":{"name":"Oporna choroba trzewna","synonyms":["Oporna CD","Oporna celiakia"],"definition":"*Oporna choroba trzewna jest rzadką chorobą jelit, która charakteryzuje się stałymi lub nawracającymi objawami potwierdzonej choroby trzewnej, które utrzymują się pomimo przestrzegania długotrwałej, ścisłej diety bezglutenowej, przy braku innych przyczyn zaniku kosmków lub złośliwych powikłań, z obecnością (lub bez) zwiększonej liczby nieprawidłowych limfocytów w przestrzeni śródnabłonkowej."},"cs":{"name":"Refrakterní celiakie","synonyms":["Refrakterní CD","Refrakterní sprue"]},"uk":{"name":"Рефрактерна целіакія","synonyms":["Рефракторний CD","Рефракторний спру"],"definition":"Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes."},"zh":{"name":"难治性乳糜泻病","synonyms":["难治性CD"],"definition":"难治性乳糜泻是一种罕见的肠道疾病，其特征是尽管长期严格的无麸质饮食，但患者仍有持续或反复出现确切的乳糜泻症状和体征。患者无其他原因的绒毛萎缩或恶性并发症，可有/无异常上皮内淋巴细胞增加。"},"tr":{"name":"Refrakter çölyak hastalığı","synonyms":["Refrakter CD","Refrakter spru"]}},"xrefs":[{"source":"ICD-10","code":"K90.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA95","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1215764349"},{"source":"MONDO","code":"0018353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749333","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":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"23609613[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-12","source":"25925926[PMID]_31297187[PMID]_31331324[PMID]","terms":[{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002853","label":"Increased proportion of HLA DR+ T cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033143","label":"Jejunitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025409","label":"Abnormal spleen physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010639","label":"Elevated alkaline phosphatase of bone origin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012052","label":"Low serum calcitriol","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Very rare (<4-1%)","criteria":null}]}}