{"Name":"Congenital chylothorax","DiseaseID__c":"GARD:0010156","id":10156,"encodedName":"congenital-chylothorax","IsDeleted":false,"Disease_Name_Full__c":"Congenital chylothorax","Xref_IDs__c":"233646003; C0340014; C535461; C98891; DOID:0060646; MEDGEN:87398; MONDO:0011331; OMIM:603523; ORPHA:264688","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011331","Disease_Description__c":"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.","GARD_Name__c":"Congenital chylothorax","GARD_Synonym__c":"hydrothorax, congenital","Curated_Disease_Description_Source__c":"MONDO:0011331","Curated_Disease_Description__c":"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:264688","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011331","ORPHANET_ID__c":"ORPHA:264688","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quilotórax congénito","Spanish_Description_Source__c":"ORPHA:264688","Spanish_Description__c":"Es una afección neonatal, poco frecuente y potencialmente letal, caracterizada por el acúmulo de quilo en el espacio pleural que conduce a distrés respiratorio, malnutrición y compromiso inmunológico, ya sea inmediatamente después del nacimiento o durante las primeras semanas de vida. El quilotórax congénito es la causa más común de derrame pleural en neonatos y puede producirse principalmente como resultado de anomalías del desarrollo del conducto linfático o estar asociado a anomalías cromosómicas (p. ej., síndrome de Noonan, síndrome de Turner y síndrome de Down), hidropesía fetal, neuroblastoma mediastínico y otras malformaciones congénitas.","Spanish_Disease_Name__c":"quilotórax congénito","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97955","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.","Curated_Disease_Description_Source__c":"MONDO:0011331","GARD_Synonym__c":"hydrothorax, congenital","Name":"Congenital chylothorax","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:264688"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:264688"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233646003","Source__c":"C0340014; MONDO:0011331","Xref__c":"233646003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535461","Source__c":"MONDO:0011331","Xref__c":"C535461"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87398","Source__c":"C0340014","Xref__c":"MEDGEN:87398"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340014","Source__c":"C0340014","Xref__c":"C0340014"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060646","Source__c":"MONDO:0011331","Xref__c":"DOID:0060646"},{"URL__c":"https://www.orpha.net/en/disease/detail/264688","Source__c":"C0340014; MONDO:0011331; ORPHA:264688","Xref__c":"ORPHA:264688"},{"URL__c":"https://www.omim.org/entry/603523","Source__c":"C0340014; MONDO:0011331; ORPHA:264688","Xref__c":"OMIM:603523"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98891","Source__c":"C0340014","Xref__c":"C98891"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011331","Source__c":"GARD:0010156","Xref__c":"MONDO:0011331"}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Pediatrics"]},"synonyms":["hydrothorax, congenital"]}