{ "id": 5629, "label": "esophageal disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0003749", "properties": { "xrefs": [ "DOID:6050", "EFO:0009544", "ICD9:530", "ICD9:530.2", "ICD9:530.20", "ICD9:530.9", "MEDGEN:8693", "MESH:D004935", "NCIT:C3027", "SCTID:30811009", "SCTID:37657006", "UMLS:C0014852", "icd11.foundation:1594312948" ], "synonyms": [ "disease of esophagus", "disease of oesophagus", "disease or disorder of esophagus", "disease or disorder of oesophagus", "disorder of esophagus", "disorder of oesophagus", "esophageal disorder", "esophagus disease", "esophagus disease or disorder", "oesophagus disease", "oesophagus disease or disorder", "esophageal ulcer" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." }, "isLeaf": false, "isRoot": false, "child_count": 20, "parents": [ { "id": 23495, "label": "upper digestive tract disorder", "isLeaf": false, "isRoot": false, "parents": [ 6151 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:712971", "SCTID:119291004", "UMLS:C1290613" ], "synonyms": [ "disease of upper digestive tract", "disease or disorder of upper digestive tract", "disorder of upper digestive tract", "disorder of upper gastrointestinal tract", "upper digestive tract disease or disorder", "upper gastrointestinal tract disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disease or disorder that involves the upper digestive tract." }, "child_count": 2, "reference_id": "MONDO:0044991" } ], "children": [ { "id": 3301, "label": "esophageal atresia", "isLeaf": false, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10485", "HP:0002032", "ICD9:750.3", "MEDGEN:4545", "MESH:D004933", "NCIT:C87072", "SCTID:26179002", "UMLS:C0014850" ], "synonyms": [ "congenital atresia of esophagus", "congenital atresia of oesophagus", "congenital esophageal atresia", "congenital imperforate oesophagus", "esophageal atresia", "esophageal atresia (disease)", "imperforate oesophagus" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." }, "child_count": 1, "reference_id": "MONDO:0001044" }, { "id": 3461, "label": "esophageal varices", "isLeaf": false, "isRoot": false, "parents": [ 5629, 9920 ], "type_id": 0, "properties": { "xrefs": [ "DOID:112", "EFO:0009545", "ICD10CM:I85", "ICD10CM:I85.0", "ICD9:456.2", "ICD9:456.20", "MEDGEN:5027", "MESH:D004932", "NCIT:C53506", "SCTID:28670008", "UMLS:C0014867" ], "synonyms": [ "esophageal varices", "esophageal varix", "esophagus varicose disease", "oesophagus varicose disease", "varicose disease of esophagus", "varicose disease of oesophagus", "bleeding esophageal varices", "bleeding oesophageal varices" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Abnormally dilated veins of the esophagus." }, "child_count": 4, "reference_id": "MONDO:0001221" }, { "id": 3630, "label": "esophagitis", "isLeaf": false, "isRoot": false, "parents": [ 5629, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11963", "HP:0100633", "ICD10CM:K20", "ICD9:530.1", "ICD9:530.10", "ICD9:530.12", "MEDGEN:4549", "MESH:D004941", "NCIT:C9224", "SCTID:16761005", "UMLS:C0014868", "icd11.foundation:1540965840" ], "synonyms": [ "esophagitis", "esophagitis (disease)", "esophagus inflammation", "inflammation of esophagus", "inflammation of oesophagus", "oesophagus inflammation", "acute esophagitis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An acute or chronic inflammatory disease affecting the esophageal wall." }, "child_count": 12, "reference_id": "MONDO:0001409" }, { "id": 3852, "label": "megaesophagus", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13186", "MEDGEN:6286", "NCIT:C34811", "SCTID:70667005", "UMLS:C0025164" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An abnormal dilation of the esophagus not due to obstruction." }, "child_count": 0, "reference_id": "MONDO:0001656" }, { "id": 6011, "label": "esophageal tuberculosis", "isLeaf": true, "isRoot": false, "parents": [ 5629, 7388 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7332", "GARD:0023868", "ICD9:017.8", "ICD9:017.80", "ICD9:017.81", "ICD9:017.83", "MEDGEN:509082", "SCTID:15284007", "UMLS:C0152902", "icd11.foundation:957834829" ], "synonyms": [ "esophagus tuberculosis", "oesophagus tuberculosis", "tuberculosis of oesophagus" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A tuberculosis that involves the esophagus." }, "child_count": 0, "reference_id": "MONDO:0004189" }, { "id": 6477, "label": "esophageal leukoplakia", "isLeaf": true, "isRoot": false, "parents": [ 5629, 23173 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9021", "HP:0012859", "ICD9:530.83", "MEDGEN:75628", "NCIT:C3953", "SCTID:89057003", "UMLS:C0267095" ], "synonyms": [ "esophageal epidermoid metaplasia", "esophageal leukoplakia", "esophageal leukoplakia (disease)", "esophagus leukoplakia", "leukoplakia of esophagus", "leukoplakia of oesophagus", "leukoplakia of the esophagus", "leukoplakia of the oesophagus", "oesophagus leukoplakia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." }, "child_count": 0, "reference_id": "MONDO:0004697" }, { "id": 6505, "label": "dyskinesia of esophagus", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9192", "ICD10CM:K22.4", "ICD9:530.5", "MEDGEN:41868", "MESH:D015154", "SCTID:266434009", "UMLS:C0014858", "icd11.foundation:581725607" ], "synonyms": [ "dyskinesia of esophagus", "esophageal motility disorder", "oesophageal dysmotility", "oesophageal motor disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." }, "child_count": 0, "reference_id": "MONDO:0004729" }, { "id": 8209, "label": "esophageal diverticulosis", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13185", "MEDGEN:214609", "MESH:D045723", "UMLS:C0917875" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." }, "child_count": 0, "reference_id": "MONDO:0006754" }, { "id": 8593, "label": "gastroesophageal reflux disease", "isLeaf": false, "isRoot": false, "parents": [ 5629, 5714, 6115 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8534", "EFO:0003948", "ICD9:530.81", "MEDGEN:6553", "MESH:D005764", "NCIT:C26781", "OMIM:109350", "SCTID:235595009", "UMLS:C0017168", "icd11.foundation:1391387859" ], "synonyms": [ "GERD", "acid reflux", "gastroesophageal reflux", "gastroesophageal reflux disease", "gastroesophageal reflux, paediatric", "gastroesophageal reflux, pediatric", "ger" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa." }, "child_count": 3, "reference_id": "MONDO:0007186" }, { "id": 9872, "label": "esophageal atresia/tracheoesophageal fistula", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080171", "GARD:0006381", "MEDGEN:21228", "MESH:C531835", "MedDRA:10021530", "MedDRA:10030146", "NORD:1108", "OMIM:189960", "Orphanet:1199", "SCTID:95435007", "UMLS:C0040588", "icd11.foundation:1582061097" ], "synonyms": [ "Esophageal Atresia and/or Tracheoesophageal Fistula", "TEF", "esophageal atresia with or without tracheoesophageal fistula", "te fistula", "tracheoesophageal fistula", "tracheoesophageal fistula with or without esophageal atresia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare congenital, esophageal disorder characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress." }, "child_count": 0, "reference_id": "MONDO:0008586" }, { "id": 9971, "label": "achalasia", "isLeaf": false, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9164", "HP:0002571", "ICD10CM:K22.0", "ICD9:530.0", "MEDGEN:5023", "SCTID:235630008", "UMLS:C0014848", "icd11.foundation:636464846" ], "synonyms": [ "achalasia", "achalasia (disease)", "achalasia of cardia", "achalasia of oesophagus", "cardiospasm", "esophageal achalasia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." }, "child_count": 2, "reference_id": "MONDO:0008698" }, { "id": 14686, "label": "Barrett esophagus", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9206", "EFO:0000280", "ICD10CM:K22.7", "ICD9:530.85", "MEDGEN:2551", "MESH:D001471", "NCIT:C2891", "OMIM:614266", "Orphanet:1232", "SCTID:196609006", "UMLS:C0004763" ], "synonyms": [ "BE", "Barrett esophagus", "Barrett esophagus/esophageal adenocarcinoma", "Barrett's esophagus", "Barrett's oesophagus with esophagitis", "Barrett's ulcer of oesophagus", "CELLO", "CLE", "cello", "columnar epithelial-lined Lower esophagus", "columnar epithelial-lined Lower oesophagus", "columnar-lined esophagus", "columnar-lined oesophagus", "Barrett metaplasia", "adenocarcinoma of esophagus", "adenocarcinoma of oesophagus" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" }, "child_count": 0, "reference_id": "MONDO:0013662" }, { "id": 16026, "label": "esophageal duplication cyst", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019744", "MEDGEN:929193", "Orphanet:100047", "SCTID:721161005", "UMLS:C4303524" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." }, "child_count": 0, "reference_id": "MONDO:0015050" }, { "id": 16027, "label": "tubular duplication of the esophagus", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019745", "MEDGEN:897945", "Orphanet:100048", "UMLS:C4274729" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." }, "child_count": 0, "reference_id": "MONDO:0015051" }, { "id": 16693, "label": "laryngotracheoesophageal cleft", "isLeaf": false, "isRoot": false, "parents": [ 4630, 5629 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003188", "MESH:C537875", "NCIT:C98622", "Orphanet:2004", "SCTID:232461002", "icd11.foundation:271795917" ], "synonyms": [ "LC", "LTEC", "Larnygeotracheoesophageal cleft", "congenital cleft larynx", "laryngeal cleft", "laryngo-tracheo-esophageal cleft", "laryngo-tracheo-esophageal diastema", "tracheal cleft" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." }, "child_count": 12, "reference_id": "MONDO:0016060" }, { "id": 18683, "label": "isolated tracheo-esophageal fistula", "isLeaf": true, "isRoot": false, "parents": [ 4630, 5629 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021895", "NCIT:C35080", "Orphanet:454750" ], "synonyms": [ "H-type tracheoesophageal fistula", "tracheo-esophageal fistula", "tracheoesophageal fistula", "isolated tracheoesophageal fistula" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare, congenital, esophageal disorder characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood." }, "child_count": 0, "reference_id": "MONDO:0018694" }, { "id": 19410, "label": "congenital esophageal diverticulum", "isLeaf": true, "isRoot": false, "parents": [ 5629, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019165", "ICD10CM:Q39.6", "ICD9:750.4", "MEDGEN:539704", "Orphanet:91358", "SCTID:204667006", "UMLS:C0266133", "icd11.foundation:42183618" ], "synonyms": [ "congenital esophageal pouch" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." }, "child_count": 0, "reference_id": "MONDO:0019620" }, { "id": 20522, "label": "neoplasm of esophagus", "isLeaf": false, "isRoot": false, "parents": [ 5629, 20434 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:4547", "NCIT:C3028", "SCTID:126817006", "UMLS:C0014859" ], "synonyms": [ "esophageal neoplasm", "esophageal neoplasms, benign and malignant", "esophageal tumor", "esophageal tumors", "esophageal tumour", "esophageal tumours", "esophagus neoplasm", "esophagus neoplasm (disease)", "esophagus tumor", "neoplasm of esophagus", "neoplasm of the esophagus", "neoplasm of the oesophagus", "oesophagus neoplasm", "oesophagus neoplasm (disease)", "oesophagus tumour", "tumor of esophagus", "tumor of the esophagus", "tumour of oesophagus", "tumour of the oesophagus" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A neoplasm (disease) that involves the esophagus." }, "child_count": 10, "reference_id": "MONDO:0021355" }, { "id": 23436, "label": "esophageal ulcer", "isLeaf": false, "isRoot": false, "parents": [ 5629, 23253 ], "type_id": 0, "properties": { "xrefs": [ "HP:0004791", "MEDGEN:56254", "NCIT:C26950", "UMLS:C0151970" ], "synonyms": [ "esophageal ulcer", "esophagus ulcer", "esophagus ulcer disease", "oesophagus ulcer", "oesophagus ulcer disease", "ulcer disease of esophagus", "ulcer disease of oesophagus" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An ulcerated lesion in the esophageal wall." }, "child_count": 2, "reference_id": "MONDO:0044782" }, { "id": 25683, "label": "congenital esophageal stenosis", "isLeaf": true, "isRoot": false, "parents": [ 5629 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026838", "MEDGEN:743886", "Orphanet:645749", "UMLS:C1963580" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957459" } ], "roots": [ { "id": 23495, "label": "upper digestive tract disorder" } ] }