raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:371445

Genetic syndromic esophageal malformation

Type
Category
Group
Group of disorders
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
enGenetic syndromic esophageal malformation
frMalformation syndromique de l'oesophage d'origine génétique
deÖsophagusfehlbildung, genetische syndromale
esMalformación esofágica sindrómica genética
itMalformazione esofagea sindromica genetica
nlGenetische syndromale oesofageale malformatieGenetische syndromale malformatie van de slokdarm
ptMalformação esofágica sindromática genética
plSyndromiczne malformacje przełyku uwarunkowane genetycznie
csGeneticky podmíněné syndromické malformace jícnu
ukГенетично обумовлена синдромальна вада розвитку стравоходу
zh遗传综合征性食管畸形
trGenetik sendromik özofagus malformasyonu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681148Evalidated

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 (5):

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