{"orpha":2847,"name":"Pericardial and diaphragmatic defect","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2847/","orphanet_url":"https://www.orpha.net/en/disease/detail/2847","names":{"fr":{"name":"Anomalies du péricarde et du diaphragme","definition":"Les anomalies du péricarde et du diaphragme forment l'association rare d'une absence du péricarde et d'une anomalie diaphragmatique congénitales."},"de":{"name":"Perikarddefekt - Hernia diaphragmatica","synonyms":["Perikard- und Zwerchfell-Defekt"],"definition":"Der Pericard- und Diaphragma-Defekt ist eine seltene Kombination von fehlendem Perikard mit angeborenem Zwerchfelldefekt."},"es":{"name":"Defecto pericárdico y diafragmático","definition":"El defecto pericárdico y diafragmático es una asociación poco frecuente de ausencia de periocardio y un defecto diafragmático congénito."},"it":{"name":"Difetto del pericardio e del diaframma"},"nl":{"name":"Pericard- en diafragmadefect","definition":"Een zeldzame combinatie van afwezig pericard en congenitaal defect van diafragma."},"pt":{"name":"Defeito do pericárdio e diafragma","synonyms":["Anomalia de pericárdio-hérnia diafragmática"],"definition":"O defeito diafragmático e pericárdico é uma combinação rara de ausência de pericárdio com defeito congénito do diafragma."},"pl":{"name":"Defekt osierdzia i przepony"},"cs":{"name":"Defekt perikardu a bránice"},"uk":{"name":"Дефект перикарда та діафрагми","definition":"Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect."},"zh":{"name":"心包和膈肌缺损"},"tr":{"name":"Perikardiyal ve diyafragmatik defekt"}},"xrefs":[{"source":"ICD-10","code":"Q79.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510305","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","classifications":[156]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-08","source":"4003450[PMID]_17377736[PMID]_11560864[PMID]_14677749[PMID]_20219701[PMID]_20265782[PMID]","terms":[{"hpo":"HP:0009112","label":"Absent left hemidiaphragm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011635","label":"Partial diaphragmatic absence of pericardium","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002245","label":"Meckel diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100632","label":"Pulmonary sequestration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}