raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1205

Mitral atresia

Type
Morphological anomaly
Group
Disorder
Status
active

A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMitral atresia
frAtrésie mitrale
deMitralatresie
esAtresia mitral
itAtresia della mitrale
nlAtresie van mitralisklep
ptAtresia mitral
plAtrezja zastawki mitralnej
csAtrézie mitrální chlopně
ukМітральна атрезія
zh二尖瓣闭锁
trMitral atrezi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q23.2NTBTinclusionvalidated
ICD-11LA89.2Especificvalidated
MONDO0015249Evalidated
UMLSC0344760Evalidated
GARD3685Evalidated
MedDRA10066800Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card