Partial atrioventricular septal defect…

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Partial atrioventricular septal defect without ventricular hypoplasia

ORPHA:576235Clinical subtype

Also called Balanced partial atrioventricular canal · PAVC without ventricular hypoplasia · Partial AVSD without ventricular hypoplasia · Partial atrioventricular canal defect without ventricular hypoplasia · Partial atrioventricular septal defect with balanced ventricles

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Not applicable
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
1-5 / 10 000 (Europe)Partial atrioventricular septal defect

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Gene

CRELD1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q21.2filed under a broader ICD-10 category — shared with 9 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

UMLS C5680352

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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