{"orpha":2368,"name":"Gastroschisis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Laparoschisis"],"definition":"A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2368/","orphanet_url":"https://www.orpha.net/en/disease/detail/2368","names":{"fr":{"name":"Laparoschisis","synonyms":["Gastroschisis"],"definition":"Malformation rare de la paroi abdominale située du côté droit de l'ombilic entraînant chez le foetus l'extériorisation de viscères en l'absence d'une enveloppe de protection."},"de":{"name":"Gastroschisis","synonyms":["Laparoschisis"],"definition":"Eine seltene Fehlbildung der Bauchdecke, die dadurch gekennzeichnet ist, dass der Darm an der rechten seitlichen Basis der Nabelschnur aus dem fetalen Bauch herausragt, ohne dass er von einem Membransack bedeckt ist."},"es":{"name":"Gastrosquisis","synonyms":["Laparosquisis"],"definition":"Es una malformación de la pared abdominal poco frecuente caracterizada por la protrusión intestinal del abdomen fetal, en la base lateral derecha del cordón umbilical y sin un saco de cobertura."},"it":{"name":"Gastroschisi","synonyms":["Laparoschisi"],"definition":"Si tratta di una rara malformazione della parete addominale, caratterizzata dalla fuoriuscita dell'intestino dall'addome del feto sul lato destro alla base del cordone ombelicale, in assenza di un sacco protettivo."},"nl":{"name":"Gastroschisis","synonyms":["Laparoschisis"],"definition":"Een zeldzame malformatie van buikwand, gekarakteriseerd door darm die rechts van de navel uitpuilt uit foetaal abdomen, niet bedekt een beschermende zak."},"pt":{"name":"Gastrosquisis","synonyms":["Laparosquisis"],"definition":"A gastrosquisis é marcada por vísceras protudentes, sem um saco de cobertura, do abdómen fetal na base lateral direita do umbigo. É devido a crescimento deficiente do embrião e outras malformações são apenas excecionalmente associadas."},"pl":{"name":"Wytrzewienie","synonyms":["Laparoschisis"]},"cs":{"name":"Gastroschiza","synonyms":["Laparoschisis","Laparoschiza","Rozštěp břišní stěny"]},"uk":{"name":"Гастрошизис","synonyms":["Лапароскопія"],"definition":"A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac."},"zh":{"name":"腹裂","synonyms":["腹裂"]},"tr":{"name":"Gastroşiz","synonyms":["Laparoşiz"]}},"xrefs":[{"source":"OMIM","code":"230750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"551758329"},{"source":"MONDO","code":"0009264","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020139","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265706","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8661","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018046","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108977,"name":"Non-syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":365563,"name":"Primary short bowel syndrome","classifications":[152,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.1,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.9,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.8,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2006[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.5,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.0,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.6,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.3,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.3,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.9,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010-2016[OTHER]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.4,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.6,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.7,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.7,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":41.6,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-10","source":"32491817[PMID]","terms":[{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034207","label":"Abnormal fetal gastrointestinal system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010881","label":"Abnormality of the umbilical cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011432","label":"Elevated maternal circulating alpha-fetoprotein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Occasional (29-5%)","criteria":null}]}}