Atrioventricular septal defect

Preferred Label : Atrioventricular septal defect;

Symbol : AVSD;

CISMeF acronym : AVCD; AVSD; AVSD1; ECD;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Atrioventricular canal defect; Avc defect; Endocardial cushion defect; AVCD; ECD;

Included titles and symbols : Atrioventricular septal defect, susceptibility to, 1; AVSD1;

Description : The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).;

Prefixed ID : %606215;

Details

Origin ID

606215;

UMLS CUI

C1389018;

Automatic exact mappings (from CISMeF team)
- Atrioventricular canal [HRDO Sign]
- Atrioventricular canal defect [HPO term]
- Complete atrioventricular canal-left heart obstruction syndrome [ORDO Disease]
- Electron-Capture Dissociation [NCIt concept]
- Endocardial cushion defect, unspecified type [ICD-9 code]
- Endocardial cushion defects [ICD-9 code]
- Erdheim-Chester Disease [NCIt concept]
- Esophageal Columnar Dysplasia [NCIt concept]
- SEM1 26S proteasome subunit [ORDO Gene]
- SEM1 wt Allele [NCIt concept]
- atrioventricular septal defect 1 [HGNC gene]
- schools, dental [CISMeF resources Type]
- schools, dental [MeSH Descriptor]
- ultrasonography, Doppler [CISMeF resources Type]
- ultrasonography, doppler [MeSH Descriptor]
Currated CISMeF NLP mapping
- Atrioventricular Septal Defect [NCIt concept]
- Atrioventricular canal [FMA entity]
- Atrioventricular canal [MedDRA LLT]
- Atrioventricular septal defect [ICD-10 Sub-category]
- Atrioventricular septal defect [ICD-11 Sub-sub category]
- Atrioventricular septal defect [ICD-10 Sub-category (who)]
- Atrioventricular septal defect [HPO term]
- Atrioventricular septal defect [MedDRA Preferred Term]
- Atrioventricular septal defect [ORDO Disease]
- Atrioventricular septal defect and common atrioventricular junction (disorder) [SNOMED CT concept]
- Complete atrioventricular canal defect [HPO term]
- Complete atrioventricular septal defect [ORDO Disease]
- Complete atrioventricular septal defect [MeSH concept]
- Endocardial cushion defect [PASCAL descriptor]
- Endocardial cushion defect (disorder) [SNOMED CT concept]
- Endocardial cushion defect NOS [MedDRA LLT]
- atrioventricular canal defect [MeSH concept]
- atrioventricular septal defect [DO Concept]
- atrioventricular septal defect [Disease (Nov.)]
- atrioventricular septal defect [MeSH concept]
- atrioventricular septal defect [MeSH Supplementary Concept]
- complete atrioventricular septal defect [MeSH Supplementary Concept]
- endocardial cushion defect [Disease (Nov.)]
- endocardial cushion defect, nos [SNOMED Notion]
- endocardial cushion defects [MeSH Descriptor]
- endocardial cushion defects [MeSH concept]
- persistent common atrioventricular canal [MeSH concept]
DO Cross reference
- atrioventricular septal defect [DO Concept]
ORDO concept(s)
- Atrioventricular septal defect [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atrioventricular Septal Defect [NCIt concept]
- Atrioventricular canal defect [HPO term]
- Atrioventricular septal defect [ICD-10 Sub-category (who)]
- Atrioventricular septal defect [HPO term]
- Atrioventricular septal defect [ICD-10 Sub-category]
- Atrioventricular septal defect [MedDRA Preferred Term]
- Atrioventricular septal defect [ORDO Disease]
- Complete atrioventricular canal defect [HPO term]
- atrioventricular canal defect [MeSH concept]
- atrioventricular septal defect [MeSH concept]
- atrioventricular septal defect [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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