{"orpha":2140,"name":"Congenital diaphragmatic hernia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CDH"],"definition":"A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2140/","orphanet_url":"https://www.orpha.net/en/disease/detail/2140","names":{"fr":{"name":"Hernie de coupole diaphragmatique","synonyms":["HCD","Hernie diaphragmatique congénitale"],"definition":"Anomalie rare du développement embryonnaire qui peut être non syndromique (70 %) ou syndromique (30 %), caractérisée par une malformation postéro-latérale du diaphragme permettant le passage des viscères abdominales dans le thorax, entraînant une insuffisance respiratoire et une hypertension pulmonaire persistante."},"de":{"name":"Zwerchfellhernie, kongenitale","synonyms":["CDH"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, bei der es sich um eine nicht-syndromale (70 %) oder syndromale (30 %) Zwerchfellfehlbildung handeln kann, die durch einen posterolateralen Defekt des Zwerchfells gekennzeichnet ist, der den Durchtritt von Bauchorganen in den Thorax ermöglicht, was zu respiratorischer Insuffizienz und anhaltender pulmonaler Hypertonie führt."},"es":{"name":"Hernia diafragmática congénita","synonyms":["CDH"],"definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis, pudiendo tratarse de una malformación diafragmática no sindrómica (70%) o sindrómica (30%), caracterizada por un defecto posterolateral del diafragma que permite el paso de las vísceras abdominales al tórax, lo que provoca insuficiencia respiratoria e hipertensión pulmonar persistente."},"it":{"name":"Ernia diaframmatica congenita","synonyms":["Agenesia diaframmatica","CDH"],"definition":"L'ernia diaframmatica congenita (CDH) è un difetto raro dello sviluppo dell'embrione, che consiste in una malformazione non sindromica (70%) o sindromica (30%) del diaframma. Si tratta di un difetto postero-laterale del diaframma, con un passaggio dei visceri addominali nel torace, che esita nell'insufficienza respiratoria e nell'ipertensione polmonare persistente."},"nl":{"name":"Congenitale hernia diaphragmatica","synonyms":["CHD","Congenitale middenrifbreuk"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese dat een niet-syndromale (70%) of syndromale (30%) malformatie van diafragma kan zijn, gekarakteriseerd door een posterolateraal defect van diafragma waardoor passage van abdominale ingewanden in thorax mogelijk is, wat leidt tot respiratoire insufficiëntie en persisterende pulmonale hypertensie."},"pt":{"name":"Hérnia diafragmática congénita","synonyms":["Agenesia diafragmática"]},"pl":{"name":"Wrodzona przepuklina przeponowa","synonyms":["Agenezja przepony","CDH"]},"cs":{"name":"Vrozená brániční kýla","synonyms":["CDH"]},"uk":{"name":"Вроджена діафрагмальна грижа","synonyms":["CDH"],"definition":"A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension."},"zh":{"name":"先天性膈疝","synonyms":["CDH"]},"tr":{"name":"Doğumsal diyafragma fıtığı","synonyms":["CDH"]}},"xrefs":[{"source":"OMIM","code":"142340","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"222400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"306950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610187","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB00.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1414428936"},{"source":"MONDO","code":"0005711","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0235833","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1481","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010439","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":180776,"name":"Non-syndromic diaphragmatic or thoracic malformation","classifications":[186]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24385578[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"]},{"symbol":"LONP1","name":"lon peptidase 1, mitochondrial","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"34547244[PMID]","hgnc":"9479","ensembl":"ENSG00000196365","omim":"605490","loci":["19p13.2"]},{"symbol":"ZFPM2","name":"zinc finger protein, FOG family member 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21525063[PMID]","hgnc":"16700","ensembl":"ENSG00000169946","omim":"603693","loci":["8q23"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Worldwide","status":"Validated","source":"8982563[PMID]_[EXPERT]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.2,"area":"Europe","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":39.3,"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 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.4,"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":19.8,"area":"Denmark","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":23.6,"area":"France","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":5.9,"area":"Germany","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":23.2,"area":"Hungary","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":21.7,"area":"Ireland","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":22.6,"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":49.8,"area":"Malta","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":29.2,"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":22.9,"area":"Norway","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":8.2,"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":18.9,"area":"Portugal","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":9.4,"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":38.9,"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":19.7,"area":"United Kingdom","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":22.3,"area":"Ukraine","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":33.0,"area":"United States","status":"Validated","source":"1290156[PMID]"},{"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":"2016-06-12","source":"22214468[PMID]_1907381[PMID]_15937941[PMID]_7815446[PMID]","terms":[{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010315","label":"Aplasia/Hypoplasia of the diaphragm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000884","label":"Prominent sternum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null}]}}