raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2846

Congenital pericardium anomaly

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

Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCongenital pericardium anomaly
frAnomalie congénitale du péricarde
dePerikardfehlbildungen, kongenitale
esAnomalía congénita del pericardio
itAnomalia congenita del pericardio
nlCongenitale pericardanomalie
ptAnomalia congénita do pericárdio
plWrodzona wada osierdzia
csVrozená anomálie perikardu
ukВроджена аномалія перикарда
zh先天性心包缺损
trDoğumsal perikard anomalisi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-11LA8DEspecificvalidated
MONDO0017300Evalidated
MONDO17300Evalidated
UMLSC0685699Evalidated

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 (3):

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