MCID: ART031
MIFTS: 52

Aortic Coarctation malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Aortic Coarctation

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Wikipedia:63 Coarctation of the aorta, or aortic narrowing (abbreviated as CoA), is a congenital condition whereby... more...

MalaCards based summary: Aortic Coarctation, also known as coarctation of the aorta, is related to pulmonary hypertension and renovascular hypertension, and has symptoms including coarctation of aortaand hypoplastic left heart. An important gene associated with Aortic Coarctation is ADRB1 (adrenoceptor beta 1), and among its related pathways are Monoamine GPCRs and Sympathetic Nerve Pathway (Neuroeffector Junction). The compounds bucindolol and aliskiren have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, and related mouse phenotypes are adipose tissue and skeleton.

Aliases & Classifications for Aortic Coarctation

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Sources:
41NIH Rare Diseases, 47Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Aortic Coarctation, Aliases & Descriptions:

Name: Aortic Coarctation 41
Coarctation of the Aorta 41
 
Aorta Coarctation 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

47
aorta coarctation:
Prevalence: 1-5/10000 (Europe),6-9/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 1457
MESH via Orphanet34 C531623, D001017
ICD10 via Orphanet26 Q25.1
UMLS via Orphanet61 C0003492
ICD1025 Q25.1

Related Diseases for Aortic Coarctation

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Diseases related to Aortic Coarctation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary hypertension30.5FBN1, EDN1
2renovascular hypertension30.4AGTR1, ACE
3congenital heart disease30.2ADRB1, ADRB2, ACE, AGTR1
4ischemia30.0AGT, ADRB2, EDN1, NOS3
5obesity29.9ADRB2, AGT, GNB3, NOS3, ADRB1
6dilated cardiomyopathy29.4EDN1, ACE, FBN1, ADRB2, CYP11B2, ADRB1
7acute myocardial infarction29.4ADRB2, ADRB1, AGTR1, AGT, ACE, EDN1
8coronary artery disease29.2ACE, AGTR1, AGT, NOS3, ADRB1, EDN1
9congestive heart failure29.2AGT, AGTR1, ACE, ADRB2, EDN1, CYP11B2
10atherosclerosis28.7AGTR1, AGT, ADRB2, ACE, GNB3, FBN1
11myocardial infarction28.7CYP11B2, AGTR1, AGT, ADRB1, EDN1, GNB3
12aneurysm10.9
13ventricular septal defect10.6
14aortic aneurysm10.6
15cerebritis10.6
16patent ductus arteriosus10.6
17left ventricular outflow tract obstruction10.6
18pulmonic stenosis10.5
19hypoaldosteronism10.5CYP11B2
20tetralogy of fallot10.5
21dextrocardia10.5
22subacute bacterial endocarditis10.5
23atrioventricular septal defect10.5
24pulmonary valve stenosis10.5
25gitelman syndrome10.4AGT
26phace syndrome10.4
27oligohydramnios10.4ACE
28aortic arch interruption10.4
29aplasia cutis congenita10.4
30congenital mitral stenosis10.4
31hepatorenal syndrome10.3EDN1
32hypertension, essential10.3AGT, GNB3
33takayasu's arteritis10.3
34thoracic aortic aneurysm10.3
35artery disease10.3
36endocarditis10.3
37alveolar capillary dysplasia10.3
38transposition of the great arteries10.3
39conn's syndrome10.3CYP11B2, AGTR1
40renal tubular dysgenesis10.3AGT, AGTR1
41pure autonomic failure10.3ACE, GNB3
42acute chest syndrome10.3NOS3
43orthostatic intolerance10.2FBN1, AGTR1
44klippel-feil syndrome10.2
45cervicitis10.2
46intracranial aneurysm10.2
47scoliosis10.2
48turner syndrome10.2
49congenitally corrected transposition of the great arteries10.2
50fibromuscular dysplasia10.2

Graphical network of the top 20 diseases related to Aortic Coarctation:



Diseases related to aortic coarctation

Symptoms for Aortic Coarctation

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HPO human phenotypes related to Aortic Coarctation:

id Description Frequency HPO Source Accession
1 coarctation of aorta HP:0001680
2 hypoplastic left heart HP:0004383

Drugs & Therapeutics for Aortic Coarctation

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Drug clinical trials:

Search ClinicalTrials for Aortic Coarctation

Search NIH Clinical Center for Aortic Coarctation

Genetic Tests for Aortic Coarctation

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Anatomical Context for Aortic Coarctation

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MalaCards organs/tissues related to Aortic Coarctation:

31
Heart, Kidney, Brain, Spinal cord, Endothelial, Pancreas, Testes

Animal Models for Aortic Coarctation or affiliated genes

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Publications for Aortic Coarctation

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Articles related to Aortic Coarctation:

(show top 50)    (show all 548)
idTitleAuthorsYear
1
Familial aortic coarctation: a rare cause of refractory hypertension in the elderly: a case report. (25634191)
2015
2
Is Intracardiac Echocardiography Essential for Monitoring Stent Deployment across Aortic Coarctation? (25684662)
2015
3
Impact of ascending to descending aortic bypass for aortic coarctation on 3-dimensional hemodynamics. (25779545)
2015
4
Percutaneous treatment of aortic coarctation with new generation self expandable stent system and the images of 320-slice tomographic angiography. (25756570)
2015
5
Pressure fields by flow-sensitive, 4D, velocity-encoded CMR in patients with aortic coarctation. (25212797)
2014
6
Increased carotid intima-media thickness predicts cardiovascular events in aortic coarctation. (25205481)
2014
7
Transcatheter aortic valve implantation in aortic coarctation. (22215496)
2013
8
Continuous cerebral and myocardial perfusion during one-stage repair for aortic coarctation with ventricular septal defect. (23132178)
2013
9
Echo rounds: transesophageal echocardiographic imagings of endovascular stent placement for the treatment of aortic coarctation with bicuspid aortic valve. (23835451)
2013
10
Aortic coarctation and coronary artery disease: the XY factor. (22675159)
2012
11
Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus. (22929832)
2012
12
Surgical versus percutaneous treatment of aortic coarctation: new standards in an era of transcatheter repair. (23253276)
2012
13
Neurohormonal activity and vascular properties late after aortic coarctation repair. (21429604)
2012
14
Delayed onset of anterior spinal artery syndrome after repair of aortic coarctation. (22858787)
2012
15
Staged hybrid treatment of complex ascending aortic and distal aortic arch pseudoaneurysm after repair of aortic coarctation. (18948867)
2011
16
Prevalence of associated cardiovascular abnormalities in 500 patients with aortic coarctation referred for cardiovascular magnetic resonance imaging to a tertiary center. (21512788)
2011
17
Therapy refractory hypertension in adults: aortic coarctation has to be ruled out. (21475399)
2011
18
Aortic coarctation in the presence of capillary hemangioma. (21764546)
2011
19
External aortic diameter ratios: a reliable method to diagnose preductal aortic coarctation. (21609160)
2011
20
Redo sternotomy for extra-anatomical correction of aortic coarctation and mitral repair in an adult after failed endovascular treatment. (21780060)
2011
21
Surgical treatment for aortic coarctation with chronic type B dissection: report of a case. (23555479)
2011
22
Atypical chest pain and hemoptysis 27 years after aortic coarctation surgery: aortobronchial fistula, management and endovascular treatment. (21489674)
2011
23
Interrupted aortic arch and aortic coarctation: two similar entities. (20200652)
2010
24
Isolated aortic coarctation: experience in 100 consecutive patients. (20391897)
2010
25
Correction of aortic coarctation with interposition of a tube in a 12 years-old child. (21340394)
2010
26
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
27
Technique of interventional repair in adult aortic coarctation. (20223618)
2010
28
A case of asymptomatic high-grade aortic coarctation. (21687218)
2009
29
Repair of aortic coarctation in an adult by direct aortoplasty. (19917797)
2009
30
A late presentation of Dandy-Walker malformation and aortic coarctation. (20019621)
2009
31
Sudden onset of sharp left-sided chest pain and hemoptysis in a young man with a history of childhood aortic coarctation repair. (18834811)
2009
32
Complete tracheal duplication in an adult with thoracic aortic coarctation. (19465840)
2009
33
What is the preferred therapy for patients with aortic coarctation--the standard gamble and decision analysis versus real results? (18093361)
2008
34
Surgical treatment of aortic coarctation in adults: Beneficial effect on arterial hypertension. (19039758)
2008
35
Mitral valve replacement with the beating heart technique in a patient with previous bypass graft from ascending to descending aorta due to aortic coarctation. (18304132)
2008
36
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
37
Aortic coarctation diagnosed by 64-slice computed tomography angiography. (17980292)
2007
38
Endovascular treatment of aortic coarctation in an adult with isthmic hypoplasia. (17484542)
2007
39
Reversibility of changes in hepatic vessels after correction of experimental aortic coarctation. (17152376)
2006
40
Right aortic coarctation and ventricular septal defect: an unusual cause of tracheal compression in infancy. (18377543)
2006
41
Effects of aortic coarctation on aortic antioxidant enzymes and NADPH oxidase protein expression. (15589970)
2005
42
Images in cardiology. Collateral circulation in aortic coarctation shown by 64 channel multislice computed tomography angiography. (16230439)
2005
43
Aortic coarctation endarteritis in an adult: case report with cardiovascular magnetic resonance imaging findings and review of the literature. (15712067)
2005
44
Endovascular stenting for aortic coarctation. (16181033)
2005
45
Asymptomatic aortic coarctation associated with loss of luminal continuity and intercostal artery aneurysm. (15041948)
2004
46
Percutaneous balloon dilatation of mitral valve stenosis and aortic coarctation. (12454343)
2002
47
An unusual type of combined aortic coarctation due to fibromuscular dysplasia. (10386705)
1999
48
Aortic coarctation, multiple ventricular septal defects, and anomalous coronary artery arising from the right pulmonary artery. (9451072)
1998
49
Functional aortic coarctation caused by thrombosis within a thoracic aortic aneurysm. (1572887)
1992
50
Scimitar syndrome associated with patent ductus arteriosus, aortic coarctation and irreversible pulmonary hypertension. (4236474)
1968

Variations for Aortic Coarctation

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Expression for genes affiliated with Aortic Coarctation

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Search GEO for disease gene expression data for Aortic Coarctation.

Pathways for genes affiliated with Aortic Coarctation

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Pathways related to Aortic Coarctation according to GeneCards Suite gene sharing:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ADRB2, ADRB1
29.8ADRB2, ADRB1
39.6AGTR1, ADRB2
49.5GNB3, ADRB1, ADRB2
5
Show member pathways
9.5GNB3, ADRB1, ADRB2
69.5ADRB2, ADRB1, GNB3
7
Show member pathways
9.5GNB3, ADRB1, ADRB2
89.5GNB3, ADRB1, ADRB2
9
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
9.5ADRB2, ADRB1, GNB3
109.5ADRB1, ADRB2, GRK4
119.4AGT, EDN1
129.4AGTR1, ADRB2, ADRB1
13
Show member pathways
9.3GNB3, ADRB2, AGTR1
14
Show member pathways
9.2AGT, ACE, GNB3
159.0NOS3, EDN1
16
Show member pathways
8.8GNB3, ACE, AGT, AGTR1
178.7EDN1, ADRB1, NOS3
18
Show member pathways
8.7GNB3, ADRB1, ADRB2, NOS3
19
Show member pathways
8.7EDN1, GNB3, AGT, AGTR1
208.5AGTR1, NOS3, ADRB2, ADRB1
21
Show member pathways
8.5AGT, ADRB2, ADRB1, GNB3, EDN1
22
Show member pathways
Calcium Regulation in the Cardiac Cell36
8.3GNB3, ADRB1, ADRB2, GRK4, NOS3
23
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.3EDN1, GNB3, NOS3, AGTR1
24
Show member pathways
8.0EDN1, GNB3, ADRB1, ADRB2, AGT, AGTR1
25
Show member pathways
8.0EDN1, GNB3, ADRB1, ADRB2, AGT, AGTR1
26
Show member pathways
8.0AGTR1, AGT, NOS3, ACE, CYP11B2

Compounds for genes affiliated with Aortic Coarctation

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Compounds related to Aortic Coarctation according to GeneCards Suite gene sharing:

(show top 50)    (show all 180)
idCompoundScoreTop Affiliating Genes
1bucindolol43 4910.6ADRB2, ADRB1, ACE
2aliskiren43 1210.4AGTR1, ACE, AGT
3saralasin439.3ACE, AGT, AGTR1
4bisoprolol43 49 1211.3ACE, ADRB2, ADRB1
5eprosartan43 28 1211.2ACE, AGTR1, AGT
6beta blocking agents499.2ADRB1, ACE, NOS3
7lacidipine439.2AGTR1, ACE, EDN1
8pd12331943 2810.2AGTR1, AGT, ACE
9trandolapril43 1210.0EDN1, ACE, AGTR1
10hydralazine43 49 1211.0AGTR1, EDN1, ACE, CYP11B2
11hydrochlorothiazide43 28 49 24 1212.9AGTR1, GNB3, ACE, CYP11B2, AGT
12chymostatin438.9AGT, EDN1, AGTR1, ACE
13benazepril43 49 1210.9AGT, ACE, ADRB2, CYP11B2, AGTR1
14valsartan43 59 28 1211.9ACE, AGTR1, AGT, EDN1
15diltiazem43 28 49 1211.8AGT, EDN1, ACE, AGTR1
16clonidine43 49 28 1211.8AGTR1, NOS3, ADRB1, GNB3
17olmesartan43 28 1210.8AGTR1, AGT, ACE
18cilazapril43 129.8ACE, EDN1, AGTR1
19captopril43 59 49 28 1212.7ACE, AGT, AGTR1, EDN1
20perindopril43 49 1210.6AGT, ACE, NOS3, AGTR1
21isoproterenol43 129.6EDN1, ADRB2, AGT, AGTR1, ADRB1
22amlodipine43 49 24 1211.6AGT, NOS3, ACE, AGTR1
23irbesartan43 28 49 1211.6AGTR1, AGT, ACE, CYP11B2, EDN1
24verapamil43 28 49 24 1212.6AGTR1, ACE, ADRB2, ADRB1, EDN1
25metoprolol43 49 28 24 1212.6ADRB1, NOS3, ADRB2, ACE, GRK4
26losartan43 49 28 1211.6AGT, ACE, EDN1, CYP11B2, AGTR1
27dopamine43 28 24 1211.6AGTR1, GRK4, AGT, GNB3, ADRB1, ADRB2
28sildenafil28 43 49 24 1212.5ACE, GNB3, EDN1, NOS3
29enalapril43 49 1210.5AGT, ACE, EDN1, AGTR1, ADRB2
30isosorbide dinitrate43 49 1210.5EDN1, NOS3, ACE
31nifedipine43 28 49 1211.5EDN1, CYP11B2, AGTR1, ACE, AGT
32l-nmma438.4NOS3, EDN1, AGT, AGTR1
33epinephrine43 24 1210.4EDN1, ADRB1, GNB3, ADRB2, AGT, AGTR1
34candesartan43 49 28 1211.4NOS3, AGT, AGTR1, ACE, CYP11B2
35nebivolol43 129.3NOS3, ACE, ADRB2, EDN1, ADRB1
36phenylephrine43 28 24 1211.3AGT, NOS3, ADRB1, EDN1, AGTR1
37potassium43 24 1210.2ADRB2, AGTR1, ACE, ADRB1, GNB3, CYP11B2
38nitroglycerin43 129.1GNB3, ACE, AGTR1, NOS3, EDN1
39glucose438.0ADRB2, AGTR1, GNB3, ADRB1, CYP11B2, AGT
40prostacyclin437.9AGTR1, AGT, NOS3, EDN1, ACE
41carvedilol43 49 28 1210.8AGTR1, ADRB1, ADRB2, ACE, NOS3, EDN1
42ang ii437.8AGT, EDN1, CYP11B2, ACE, NOS3, AGTR1
43lipid437.7FBN1, CYP11B2, GNB3, ADRB1, ADRB2, ACE
44sodium43 248.6AGT, AGTR1, EDN1, GNB3, CYP11B2, ADRB1
45acetylcholine43 49 28 24 1211.6EDN1, ADRB2, AGTR1, AGT, ACE, NOS3
46atenolol43 49 28 24 1211.6GNB3, EDN1, CYP11B2, AGTR1, AGT, ACE
47norepinephrine43 24 129.6ACE, EDN1, AGT, CYP11B2, GNB3, ADRB1
48arginine437.1ADRB1, AGT, NOS3, AGTR1, EDN1, CYP11B2
49oxygen43 248.1EDN1, AGTR1, ADRB2, CYP11B2, AGT, NOS3
50nitric oxide43 24 128.8AGTR1, EDN1, NOS3, ACE, ADRB2, ADRB1

GO Terms for genes affiliated with Aortic Coarctation

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Biological processes related to Aortic Coarctation according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1heat generationGO:003164910.2ADRB1, ADRB2
2vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:000202510.2ADRB1, ADRB2
3negative regulation of smooth muscle contractionGO:004598610.2ADRB1, ADRB2
4diet induced thermogenesisGO:000202410.2ADRB1, ADRB2
5negative regulation of multicellular organism growthGO:004001510.1ADRB2, ADRB1
6positive regulation of NAD(P)H oxidase activityGO:003386410.0AGT, AGTR1
7regulation of blood vessel size by renin-angiotensinGO:000203410.0AGT, AGTR1
8regulation of calcium ion transportGO:005192410.0AGT, ADRB1
9regulation of renal sodium excretionGO:003581310.0AGT, AGTR1
10brown fat cell differentiationGO:005087310.0ADRB1, ADRB2
11renin-angiotensin regulation of aldosterone productionGO:000201810.0AGT, AGTR1
12activation of adenylate cyclase activityGO:000719010.0ADRB2, ADRB1
13positive regulation of cholesterol esterificationGO:001087310.0AGT, AGTR1
14regulation of renal output by angiotensinGO:000201910.0ACE, AGT
15low-density lipoprotein particle remodelingGO:00343749.9AGT, AGTR1
16positive regulation of cellular protein metabolic processGO:00322709.9AGT, AGTR1
17positive regulation of macrophage derived foam cell differentiationGO:00107449.9AGTR1, AGT
18regulation of systemic arterial blood pressure by renin-angiotensinGO:00030819.9ACE, AGTR1
19angiotensin maturationGO:00020039.8ACE, AGT
20response to coldGO:00094099.8ADRB1, ADRB2, AGT
21positive regulation of reactive oxygen species metabolic processGO:020003799.8AGTR1, AGT
22artery smooth muscle contractionGO:00148249.8AGT, EDN1
23positive regulation of cardiac muscle hypertrophyGO:00106139.8EDN1, AGT
24positive regulation of renal sodium excretionGO:00358159.7EDN1, AGT
25positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling paGO:00514829.7EDN1, AGTR1
26phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00072009.7AGTR1, AGT
27regulation of sodium ion transportGO:00020289.6ADRB2, NOS3
28sensory perception of painGO:00192339.6ADRB1, EDN1
29positive regulation of endothelial cell migrationGO:00105959.6EDN1, AGT
30regulation of vasodilationGO:00423129.5ADRB2, ACE, AGTR1
31positive regulation of inflammatory responseGO:00507299.5AGT, AGTR1
32nitric oxide mediated signal transductionGO:00072639.5NOS3, AGT
33Rho protein signal transductionGO:00072669.4ADRB1, AGTR1
34regulation of systemic arterial blood pressure by endothelinGO:00031009.4EDN1, NOS3
35calcium-mediated signalingGO:00197229.4AGTR1, EDN1
36regulation of blood pressureGO:00082179.2NOS3, ACE, GNB3
37blood vessel remodelingGO:00019749.1AGT, NOS3, ACE
38G-protein coupled receptor signaling pathwayGO:00071869.0AGTR1, AGT, GNB3, EDN1
39kidney developmentGO:00018229.0AGTR1, AGT, ACE, FBN1
40regulation of vasoconstrictionGO:00192298.9AGTR1, AGT, ACE, EDN1

Molecular functions related to Aortic Coarctation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1norepinephrine bindingGO:00513809.5ADRB2, ADRB1
2bradykinin receptor bindingGO:00317119.4AGTR1, ACE
3protein bindingGO:00055156.1FBN1, GNB3, ADRB1, ADRB2, ACE, NOS3

Products for genes affiliated with Aortic Coarctation

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Sources for Aortic Coarctation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet