{"Name":"Congenital pulmonary venous return anomaly","DiseaseID__c":"GARD:0004599","id":4599,"encodedName":"congenital-pulmonary-venous-return-anomaly","IsDeleted":false,"Disease_Name_Full__c":"Congenital pulmonary venous return anomaly","Xref_IDs__c":"C0265916; MEDGEN:539577; MONDO:0017705; ORPHA:3090","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017705","Disease_Description__c":"A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.","GARD_Name__c":"Congenital pulmonary venous return anomaly","GARD_Synonym__c":"anomalous pulmonary venous connection; anomalous pulmonary venous drainage; apvc - anomalous pulmonary venous connection; apvd - anomalous pulmonary venous drainage; congenital pulmonary venous connection anomaly","Curated_Disease_Description_Source__c":"ORPHA:3090","Curated_Disease_Description__c":"Congenital pulmonary venous return anomaly is a rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3090","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017705","ORPHANET_ID__c":"ORPHA:3090","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retorno venoso pulmonar anómalo congénito","Spanish_Description_Source__c":"ORPHA:3090","Spanish_Description__c":"Es una malformación cardíaca en la que algunas o todas las venas pulmonares drenan en la aurícula derecha o en las venas sistémicas, con o sin la presencia de obstrucción venosa pulmonar, lo que conduce a diversas manifestaciones tales como fatiga, disnea de esfuerzo, hipertensión arterial pulmonar, cianosis e insuficiencia cardíaca progresiva. Los dos subtipos principales son: drenaje venoso pulmonar anómalo parcial del retorno venoso pulmonar (DAVPP), en la que una o algunas de las venas pulmonares son anómalas, y el total (DAVPT), en la que todas las venas pulmonares están afectadas.","Spanish_Disease_Name__c":"retorno venoso pulmonar anómalo congénito","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 pulmonary venous return anomaly is a rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.","Curated_Disease_Description_Source__c":"ORPHA:3090","GARD_Synonym__c":"anomalous pulmonary venous connection; anomalous pulmonary venous drainage; apvc - anomalous pulmonary venous connection; apvd - anomalous pulmonary venous drainage; congenital pulmonary venous connection anomaly","Name":"Congenital pulmonary venous return anomaly","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CCHD"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3090","Source__c":"C0265916; MONDO:0017705; ORPHA:3090","Xref__c":"ORPHA:3090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265916","Source__c":"C0265916","Xref__c":"C0265916"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539577","Source__c":"C0265916","Xref__c":"MEDGEN:539577"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59631007","Source__c":"C0265916","Xref__c":"59631007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017705","Source__c":"GARD:0004599","Xref__c":"MONDO:0017705"}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Vascular Medicine"],"Disease Category":["Congenital Abnormality"]},"synonyms":["anomalous pulmonary venous connection"," anomalous pulmonary venous drainage"," apvc - anomalous pulmonary venous connection"," apvd - anomalous pulmonary venous drainage"," congenital pulmonary venous connection anomaly"]}