{
  "id": 19565,
  "label": "congenital anomaly of superior vena cava",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019829",
  "properties": {
    "xrefs": [
      "GARD:0019275",
      "ICD9:747.49",
      "MEDGEN:539589",
      "Orphanet:95498",
      "SCTID:70195006",
      "UMLS:C0265928",
      "icd11.foundation:1459500132"
    ],
    "synonyms": [
      "congenital anomaly of superior caval vein",
      "congenital anomaly of the SVC"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 19899,
      "label": "persistent left superior vena cava connecting to the left-sided atrium",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019652",
          "MEDGEN:1830102",
          "Orphanet:99109",
          "UMLS:C5680293"
        ],
        "synonyms": [
          "left superior caval vein persisting to the left-sided atrium",
          "persistent left SVC connecting to the left-sided atrium",
          "persistent left superior caval vein connecting to the left-sided atrium"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020440"
    },
    {
      "id": 19900,
      "label": "right superior vena cava connecting to left-sided atrium",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019653",
          "MEDGEN:576401",
          "Orphanet:99110",
          "UMLS:C0344658"
        ],
        "synonyms": [
          "right SVC connecting to left-sided atrium",
          "right superior caval vein connecting to left-sided atrium"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020441"
    },
    {
      "id": 19901,
      "label": "left superior vena cava persisting to left-sided atrium",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019654",
          "ICD9:747.49",
          "MEDGEN:1843013",
          "Orphanet:99111",
          "SCTID:445436005",
          "UMLS:C5680292",
          "icd11.foundation:320170224"
        ],
        "synonyms": [
          "left SVC persisting to left-sided atrium",
          "left superior caval vein persisting to left-sided atrium"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020442"
    },
    {
      "id": 19902,
      "label": "absence of innominate vein",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019655",
          "MEDGEN:1640707",
          "Orphanet:99112",
          "UMLS:C4707656"
        ],
        "synonyms": [
          "absence of brachiocephalic vein"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020443"
    },
    {
      "id": 19903,
      "label": "subaortic course of innominate vein",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019656",
          "MEDGEN:1637333",
          "Orphanet:99113",
          "SCTID:766756002",
          "UMLS:C4707821"
        ],
        "synonyms": [
          "subaortic course of brachiocephalic vein"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020444"
    },
    {
      "id": 19904,
      "label": "agenesis of the superior vena cava",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019657",
          "ICD9:747.49",
          "MEDGEN:539590",
          "Orphanet:99114",
          "SCTID:204464007",
          "UMLS:C0265929"
        ],
        "synonyms": [
          "absence of the SVC",
          "absence of the superior caval vein",
          "absence of the superior vena cava",
          "agenesis of the SVC",
          "agenesis of the superior caval vein"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020445"
    },
    {
      "id": 25819,
      "label": "primary superior vena cava aneurysm",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19565
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026928",
          "MEDGEN:1863724",
          "Orphanet:652668",
          "UMLS:C5925121"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958097"
    }
  ],
  "roots": [
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}