atrioventricular septal defect
Information
- Disease name
- atrioventricular septal defect
- Disease ID
- DOID:0050651
- Description
- "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01120964 | Completed | Phase 1/Phase 2 | Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol | September 2010 | April 2012 |
| NCT05253209 | Recruiting | Phase 3 | A Study Evaluating the Efficacy and Safety of IV L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects | June 29, 2022 | February 10, 2024 |
| NCT01825369 | Withdrawn | Phase 1 | Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow | December 2014 | July 2020 |
- Exact Synonym (Disease Ontology)
- atrioventricular canal defect
- Exact Synonym (Disease Ontology)
- AVCD
- Exact Synonym (Disease Ontology)
- AVSD
- Exact Synonym (Disease Ontology)
- ECD
- Exact Synonym (Disease Ontology)
- endocardial cushion defect
- Disase is a (Disease Ontology)
- DOID:1681
- Cross Reference ID (Disease Ontology)
- GARD:802
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q21.2
- Cross Reference ID (Disease Ontology)
- ICD9CM:745.6
- Cross Reference ID (Disease Ontology)
- MESH:D004694
- Cross Reference ID (Disease Ontology)
- MIM:606215
- Cross Reference ID (Disease Ontology)
- MIM:614430
- Cross Reference ID (Disease Ontology)
- MIM:614474
- Cross Reference ID (Disease Ontology)
- ORDO:98722
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:204322008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0014116
- OMIM Phenotype Series Number (OMIM)
- PS606215
- ICD10 class code (Insert disease from ICD10)
- Q21.2
- ICD10 preferred id (Insert disease from ICD10)
- D0013654