{"orpha":63862,"name":"Schisis association","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63862/","orphanet_url":"https://www.orpha.net/en/disease/detail/63862","names":{"fr":{"name":"Schisis association","definition":"Combinaison de deux ou plusieurs anomalies suivantes : anomalies du tube neural (anencéphalie, encéphalocèle, spina bifida cystica), fente labiale/palatine, omphalocèle et hernie diaphragmatique congénitale. Ces anomalies sont associées à une fréquence plus élevée que celle à laquelle on pourrait s'attendre en cas d'associations aléatoires."},"de":{"name":"Schisis-Assoziation","definition":"Die Schisis-Assoziation beschreibt die Kombination von zwei oder mehr der folgenden Anomalien: Neuralrohrdefekte (z. B. Anenzephalie, Enzephalozele, Spina bifida cystica), Lippen-Kiefer-Gaumen-Spalte, Omphalozele und kongenitale Zwerchfellhernie (siehe diese Begriffe). Diese Anomalien sind mit einer höheren Häufigkeit assoziiert, als mit zufälligen Kombinationsraten zu erwarten wäre."},"es":{"name":"Asociación esquisis","definition":"Este término describe la combinación de dos o más de las siguientes anomalías: defectos del tubo neural (p. ej., anencefalia, encefalocele, espina bífida quística), labio leporino con o sin paladar hendido, hernia diafragmática congénita y onfalocele. Estas anomalías están asociadas con una frecuencia más elevada de lo que se esperaría por mero azar."},"it":{"name":"Associazione fra schisi","definition":"L'associazione tra schisi consiste nella combinazione tra due o più delle seguenti anomalie: difetti del tubo neurale (anencefalia, encefalocele, spina bifida cistica), labioschisi/palatoschisi, onfalocele ed ernia diaframmatica congenita (si vedano questi termini). Queste anomalie si associano molto più spesso rispetto a quanto sarebbe casualmente atteso."},"nl":{"name":"Schisisassociatie","definition":"Schisisassociatie beschrijft de combinatie van twee of meer van de volgende anomalieën: neuralebuisdefecten (e.g. anencefalie, encefalocèle, spina bifida cystica), gespleten lip/verhemelte, omfalocèle en congenitale diafragmatische hernia (zie deze termen). Deze anomalieën zijn met een hogere frequentie geassocieerd dan zou verwacht worden in geval van willekeurige combinaties."},"pt":{"name":"Esquisis, associação"},"pl":{"name":"Asocjacja SCHISIS"},"cs":{"name":"Vícečetný rozštěp"},"uk":{"name":"Шизіс асоціація","definition":"Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates."},"zh":{"name":"裂联合征"},"tr":{"name":"Şizis ilişkisi"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018976","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931271","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"246","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"7294060[PMID]","terms":[{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}