raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1132

Aortic arch defects

Type
Category
Group
Group of disorders
Inheritance
Not applicable
Age of onset
Childhood
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAortic arch defects
frArcs aortiques anormaux
deAortenbogen-Defekte
esArcos aórticos anómalos
itAnomalie dell'arco aortico
nlAortaboogdefecten
ptAnomalia do arco aórtico
plWady łuku aorty
csDefekt aortálního oblouku
ukВади дуги аорти
zh主动脉弓中断
trAortik ark defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0015236Evalidated
MONDO15236Evalidated
UMLSC5680872Evalidated
GARD741Evalidated

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):

Children (7):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

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

7

Sources for this card