{ "id": 6967, "label": "heart disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005267", "properties": { "xrefs": [ "DOID:114", "EFO:0003777", "ICD9:429.89", "ICD9:429.9", "ICD9:V47.2", "MEDGEN:5458", "MESH:D006331", "NCIT:C3079", "SCTID:56265001", "UMLS:C0018799", "icd11.foundation:1512587470" ], "synonyms": [ "cardiac disease", "disease of heart", "disease or disorder of heart", "disorder of heart", "disorder of heart/pericardium", "heart disease", "heart disease or disorder", "heart disorder", "heart trouble", "heart/pericardial disease", "heart/pericardial disease or disorder", "heart/pericardial disorder", "heart/pericardial trouble" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the heart and/or pericardium." }, "isLeaf": false, "isRoot": false, "child_count": 34, "parents": [ { "id": 6736, "label": "cardiovascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1287", "EFO:0000319", "ICD10CM:I00-I99", "ICD9:390-459", "ICD9:420-429", "ICD9:423", "ICD9:423.8", "ICD9:424", "ICD9:429", "ICD9:429.2", "ICD9:429.7", "ICD9:429.8", "ICD9:429.81", "ICD9:429.89", "ICD9:459.89", "ICD9:459.9", "MEDGEN:2848", "MESH:D002318", "NANDO:1100005", "NCIT:C2931", "SCTID:49601007", "UMLS:C0007222", "icd11.foundation:424293435", "icd11.foundation:426429380" ], "synonyms": [ "cardiovascular disease", "cardiovascular disease (CVD)", "cardiovascular disorder", "cardiovascular system disease", "cardiovascular system disease or disorder", "disease of cardiovascular system", "disease or disorder of cardiovascular system", "disorder of cardiovascular system", "circulatory system disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the cardiovascular system." }, "child_count": 6, "reference_id": "MONDO:0004995" } ], "children": [ { "id": 2931, "label": "endocardium disorder", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050825", "MEDGEN:678520", "SCTID:123596001", "UMLS:C0854140" ], "synonyms": [ "disease of endocardium", "disease or disorder of endocardium", "disorder of endocardium", "endocardial disease", "endocardium disease", "endocardium disease or disorder", "endocardiopathy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the endocardium." }, "child_count": 3, "reference_id": "MONDO:0000470" }, { "id": 2934, "label": "pericardium disorder", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050829", "ICD9:423.8", "ICD9:423.9", "MEDGEN:539093", "SCTID:55855009", "UMLS:C0265122" ], "synonyms": [ "disease of pericardium", "disease or disorder of pericardium", "disorder of pericardium", "pericardium disease", "pericardium disease or disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the pericardium." }, "child_count": 3, "reference_id": "MONDO:0000474" }, { "id": 3141, "label": "cardiac tuberculosis", "isLeaf": true, "isRoot": false, "parents": [ 2868, 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060570", "GARD:0022831", "MEDGEN:1830134", "MESH:D014381", "UMLS:C5704594" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." }, "child_count": 0, "reference_id": "MONDO:0000813" }, { "id": 3258, "label": "heart conduction disease", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10273", "ICD9:426.6", "SCTID:44808001" ], "synonyms": [ "cardiac conduction disease", "cardiac conduction disorder", "conduction disease of heart", "disease of cardiac conduction", "disorder of cardiac conduction" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease that has its basis in the disruption of the heart's electrical conduction system." }, "child_count": 10, "reference_id": "MONDO:0000992" }, { "id": 3535, "label": "hypertensive heart disease", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11516", "ICD10CM:I11", "ICD10WHO:I11", "ICD9:402", "ICD9:402.9", "MEDGEN:508889", "NCIT:C4907", "SCTID:64715009", "UMLS:C0152105", "icd11.foundation:1210166201" ], "synonyms": [ "hypertensive heart disease", "hypertensive cardiomegaly", "hypertensive cardiopathy", "hypertensive cardiovascular disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Abnormal enlargement of the heart resulting from long-standing hypertension." }, "child_count": 0, "reference_id": "MONDO:0001302" }, { "id": 4883, "label": "heart valve disorder", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4079", "EFO:0009551", "ICD9:424.99", "MEDGEN:5463", "MESH:D006349", "NANDO:2100105", "NCIT:C45525", "SCTID:368009", "UMLS:C0018824", "icd11.foundation:1121431779" ], "synonyms": [ "cardial valve disease", "cardial valve disease or disorder", "disease of cardial valve", "disease or disorder of cardial valve", "disorder of cardial valve", "disorder of heart valve", "heart valve disorder", "valvular heart disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the cardial valve." }, "child_count": 4, "reference_id": "MONDO:0002869" }, { "id": 6735, "label": "cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 5798, 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050700", "EFO:0000318", "ICD10CM:I42", "ICD10WHO:I42", "ICD9:425", "ICD9:425.4", "ICD9:425.9", "MEDGEN:209232", "MESH:D009202", "MedDRA:10007636", "NCIT:C34830", "Orphanet:167848", "SCTID:85898001", "UMLS:C0878544", "icd11.foundation:282225286" ], "synonyms": [ "Cardiomyopathies", "cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." }, "child_count": 24, "reference_id": "MONDO:0004994" }, { "id": 6748, "label": "coronary artery disorder", "isLeaf": false, "isRoot": false, "parents": [ 2933, 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3393", "EFO:0001645", "ICD9:410-414", "ICD9:414.0", "ICD9:414.9", "MEDGEN:365486", "MESH:D003324", "NCIT:C26732", "SCTID:414024009", "UMLS:C1956346", "icd11.foundation:1059873720" ], "synonyms": [ "CAD", "CHD (coronary heart disease)", "coronary artery disease", "coronary artery disease or disorder", "coronary disease", "coronary heart disease", "disease of coronary artery", "disease or disorder of coronary artery", "disorder of coronary artery", "coronary arteriosclerosis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" }, "child_count": 24, "reference_id": "MONDO:0005010" }, { "id": 6955, "label": "heart failure", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003144", "ICD10CM:I50", "ICD10WHO:I50", "ICD9:428", "ICD9:428.9", "MEDGEN:6749", "MESH:D006333", "NCIT:C50577", "SCTID:84114007", "UMLS:C0018801", "icd11.foundation:1458683894" ], "synonyms": [ "cardiac failure", "cardiac insufficiency", "failure, heart", "heart failure", "insufficiency, Cardiac" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." }, "child_count": 4, "reference_id": "MONDO:0005252" }, { "id": 7116, "label": "congenital heart disease", "isLeaf": false, "isRoot": false, "parents": [ 6967, 21294 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1682", "EFO:0005207", "ICD9:746.84", "ICD9:746.89", "ICD9:746.9", "MEDGEN:57501", "MESH:D006330", "NCIT:C95834", "SCTID:13213009", "UMLS:C0152021", "icd11.foundation:2004408087" ], "synonyms": [ "heart malformation", "congenital anomaly of heart", "congenital heart defect", "congenital heart defects", "Abnormality, heart", "abnormalities, heart", "defect, congenital heart", "defects, congenital heart", "heart abnormalities", "heart abnormality", "heart defect, congenital", "heart, malformation Of" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." }, "child_count": 46, "reference_id": "MONDO:0005453" }, { "id": 8229, "label": "heart aneurysm", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9768", "EFO:1000959", "ICD10CM:I25.3", "ICD9:414.10", "ICD9:414.19", "MEDGEN:42360", "MESH:D006322", "MedDRA:10002350", "NANDO:2200234", "SCTID:65340007", "UMLS:C0018789", "icd11.foundation:1571863865" ], "synonyms": [ "cardiac aneurysm" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." }, "child_count": 0, "reference_id": "MONDO:0006779" }, { "id": 8383, "label": "rheumatic heart disease", "isLeaf": false, "isRoot": false, "parents": [ 6967, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050827", "EFO:1001161", "ICD9:398.90", "ICD9:398.99", "MEDGEN:20565", "MESH:D012214", "MedDRA:10062110", "NCIT:C34882", "SCTID:23685000", "UMLS:C0035439", "icd11.foundation:291726710" ], "synonyms": [ "RHD", "disease, rheumatic heart", "heart disease, rheumatic", "rheumatic carditis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." }, "child_count": 8, "reference_id": "MONDO:0006955" }, { "id": 8666, "label": "cardiac rhythm disease", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:427.9", "MEDGEN:2039", "NCIT:C2881", "SCTID:698247007", "UMLS:C0003811" ], "synonyms": [ "arrhythmia" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart." }, "child_count": 17, "reference_id": "MONDO:0007263" }, { "id": 11380, "label": "white forelock with malformations", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010081", "MEDGEN:376362", "MESH:C536700", "OMIM:277740", "Orphanet:2475", "SCTID:763619009", "UMLS:C1848463" ], "synonyms": [ "white forelock with malformations" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." }, "child_count": 0, "reference_id": "MONDO:0010199" }, { "id": 11961, "label": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6967, 16089, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002742", "MEDGEN:374010", "MESH:C563994", "OMIM:600123", "Orphanet:1352", "UMLS:C1838606" ], "synonyms": [ "Houlston-Ironton-Temple syndrome", "atrioventricular septal defect with blepharophimosis and anal and radial defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." }, "child_count": 0, "reference_id": "MONDO:0010825" }, { "id": 12176, "label": "microcephaly-cardiac defect-lung malsegmentation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002098", "MEDGEN:371329", "MESH:C563341", "OMIM:601355", "Orphanet:2516", "SCTID:719379001", "UMLS:C1832436" ], "synonyms": [ "Ellis-Yale-Winter syndrome", "Ellis Yale Winter syndrome", "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis", "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." }, "child_count": 0, "reference_id": "MONDO:0011050" }, { "id": 12766, "label": "PHACE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6967, 16088, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008338", "MEDGEN:376231", "MedDRA:10068032", "NORD:1927", "OMIM:606519", "Orphanet:42775", "UMLS:C1847874", "icd11.foundation:1825849023" ], "synonyms": [ "pascual-Castroviejo syndrome type 2", "P-CIIS", "PHACE association", "Phaces association", "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities", "aortic aneurysm, giant congenital", "pascual-Castroviejo type II syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." }, "child_count": 0, "reference_id": "MONDO:0011676" }, { "id": 14091, "label": "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017116", "MEDGEN:414129", "MESH:C567850", "OMIM:612946", "Orphanet:217026", "SCTID:719395001", "UMLS:C2751878" ], "synonyms": [ "Hadziselimovic syndrome", "microcephaly-faciocardioskeletal syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." }, "child_count": 0, "reference_id": "MONDO:0013053" }, { "id": 16177, "label": "cardiac anomalies-heterotaxy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019883", "MEDGEN:929639", "Orphanet:137628", "UMLS:C4303970" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." }, "child_count": 0, "reference_id": "MONDO:0015296" }, { "id": 16971, "label": "polyvalvular heart disease syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6967, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020594", "MEDGEN:1376905", "Orphanet:228410", "SCTID:723448007", "UMLS:C4509918" ], "synonyms": [ "PHD syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." }, "child_count": 4, "reference_id": "MONDO:0016460" }, { "id": 18209, "label": "Thomas syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005175", "MEDGEN:419362", "MESH:C536514", "Orphanet:3316", "SCTID:716740009", "UMLS:C2931225" ], "synonyms": [ "Potter sequence-cleft lip/palate-cardiopathy syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0018043" }, { "id": 18847, "label": "22q11.2 deletion syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6778, 6967, 16088, 20971 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:16", "GARD:0010299", "MedDRA:10012979", "MedDRA:10066430", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NORD:853", "Orphanet:567", "icd11.foundation:1868156761" ], "synonyms": [ "22q11DS", "Cayler cardiofacial syndrome", "Chromosome 22q11.2 Deletion Syndrome", "Sedlackova syndrome", "Shprintzen syndrome", "Takao syndrome", "catch 22", "conotruncal anomaly face syndrome", "microdeletion 22q11.2", "monosomy 22q11", "DiGeorge sequence", "DiGeorge syndrome", "VCFS", "velocardiofacial syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." }, "child_count": 20, "reference_id": "MONDO:0018923" }, { "id": 20255, "label": "myocardial rupture", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010468", "MEDGEN:6750", "MESH:D006341", "UMLS:C0018813" ], "synonyms": [ "Cardiac Free Wall Rupture", "Cardiac Rupture", "Cardiac Ruptures", "Free Wall Rupture, Heart", "Heart Rupture", "Heart Ruptures", "Myocardial Rupture", "Rupture of heart", "Ventricular Free Wall Rupture" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." }, "child_count": 0, "reference_id": "MONDO:0020983" }, { "id": 20427, "label": "heart neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6967, 20518, 21585 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001339", "GARD:0002619", "MEDGEN:9172", "NANDO:2100061", "NANDO:2200236", "NCIT:C3081", "UMLS:C0018809" ], "synonyms": [ "Cardiac neoplasm", "Cardiac neoplasms", "Cardiac tumor", "Cardiac tumour", "heart neoplasm (disease)", "heart tumor", "heart tumour", "neoplasm of heart", "neoplasm of the heart", "tumor of heart", "tumor of the heart", "tumour of heart", "tumour of the heart", "Intracavitary tumors", "Intracavitary tumours", "myocardial tumors (rhabdomyomas and fibromas)", "myocardial tumours (rhabdomyomas and fibromas)", "primary cardiac tumors, childhood" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A neoplasm (disease) that involves the heart." }, "child_count": 30, "reference_id": "MONDO:0021209" }, { "id": 20772, "label": "aortopulmonary window", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "HP:0011604", "ICD10CM:Q21.4", "MEDGEN:365", "MESH:D001028", "NANDO:2100082", "NANDO:2200262", "NCIT:C101050", "SCTID:17024001", "UMLS:C0003516" ], "synonyms": [ "AP window", "APSD", "APW", "aortopulmonary septal defect", "aortopulmonary window", "aortic-pulmonary window", "aorto-pulmonary window" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery." }, "child_count": 0, "reference_id": "MONDO:0021902" }, { "id": 21025, "label": "cor biloculare", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:745.7", "MEDGEN:56271", "NCIT:C124591", "SCTID:81990004", "UMLS:C0152238" ], "synonyms": [ "Cor Biloculare", "TWO-chambered heart", "cor biloculare", "absence of atrial and ventricular septa" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital anatomic anomaly in which the heart has only two chambers." }, "child_count": 0, "reference_id": "MONDO:0022859" }, { "id": 21547, "label": "inflammation of heart layer", "isLeaf": false, "isRoot": false, "parents": [ 6967, 20399 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:429.89", "MEDGEN:163689", "SCTID:399617002", "UMLS:C0869523" ], "synonyms": [ "carditis", "heart layer inflammation" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." }, "child_count": 4, "reference_id": "MONDO:0024636" }, { "id": 21552, "label": "myocardial disorder", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:469033", "NCIT:C35544", "SCTID:57809008", "UMLS:C3241958" ], "synonyms": [ "disease of myocardium", "disease or disorder of myocardium", "disorder of myocardium", "myocardial disease", "myocardial disorder", "myocardium disease", "myocardium disease or disorder", "disorder of heart muscle" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." }, "child_count": 5, "reference_id": "MONDO:0024643" }, { "id": 23223, "label": "carcinoid heart disease", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:762", "MESH:D002275", "SCTID:36222008", "UMLS:C0007093" ], "synonyms": [ "carcinoid heart disease", "carcinoid heart diseases", "heart disease, carcinoid", "heart diseases, carcinoid" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." }, "child_count": 0, "reference_id": "MONDO:0043529" }, { "id": 23380, "label": "omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16088, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010354", "Orphanet:496693" ], "synonyms": [ "Gershoni-Baruch syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044649" }, { "id": 23462, "label": "coronary microvascular disorder", "isLeaf": true, "isRoot": false, "parents": [ 6967, 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:104771", "NCIT:C84478", "UMLS:C0206064", "icd11.foundation:1752457658" ], "synonyms": [ "CMD", "coronary microvascular disease", "heart disease of microvascular endothelium", "microvascular endothelium heart disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." }, "child_count": 0, "reference_id": "MONDO:0044875" }, { "id": 23501, "label": "cardiac ventricle disorder", "isLeaf": false, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:736361", "SCTID:415991003", "UMLS:C1562298" ], "synonyms": [ "cardiac ventricle disease", "cardiac ventricle disease or disorder", "disease of cardiac ventricle", "disease or disorder of cardiac ventricle", "disorder of cardiac ventricle" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease or disorder that involves the cardiac ventricle." }, "child_count": 2, "reference_id": "MONDO:0045001" }, { "id": 24272, "label": "cardiogenetic disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6967 ], "type_id": 0, "properties": { "synonyms": [ "hereditary heart disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system." }, "child_count": 146, "reference_id": "MONDO:0100547" }, { "id": 24867, "label": "cardiogenic shock", "isLeaf": true, "isRoot": false, "parents": [ 6967 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019362", "ICD10CM:R57.0", "MEDGEN:48650", "MedDRA:10007625", "Orphanet:97292", "UMLS:C0036980", "icd11.foundation:1974956233" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels." }, "child_count": 0, "reference_id": "MONDO:0800175" } ], "roots": [ { "id": 6736, "label": "cardiovascular disorder" } ] }