Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Partial atrioventricular septal defect
Synonyms

Partial atrioventricular canal defect

PAVC

Partial AVSD
Definitions

A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.
ID

http://www.orpha.net/ORDO/Orphanet_1330
alternative_term

Partial atrioventricular canal defect

PAVC

Partial AVSD
definition

A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1330
has_age_of_onset

All ages
has_inheritance

Not applicable
hasDbXref

ICD-11:LA87.40

MeSH:C536112

UMLS:C0344735

ICD-10:Q21.2
label

Partial atrioventricular septal defect
notation

ORPHA:1330
part_of

http://www.orpha.net/ORDO/Orphanet_98722
prefixIRI

ORDO:Orphanet_1330
prefLabel

Partial atrioventricular septal defect
present_in

Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 20.0 AND has_birth_prevalence_range : 1-5 / 10 000
treeView

http://www.orpha.net/ORDO/Orphanet_98722
subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791
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