raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:104003

Congenital intestinal transport defect

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
enCongenital intestinal transport defect
frAnomalie congénitale du transport intestinal
deIntestinaler Transporter-Defekt, kongenitaler
esDefecto congénito en el transporte intestinal
itDifetto congenito del trasporto intestinale
nlCongenitaal intestinaal transportdefect
ptDeficiência no transporte intestinal, congénita
plWrodzony defekt transportu jelitowego
csVrozené defekty střevní pasáže
ukВроджена вада кишкового транспорту
zh先天性肠转运缺陷
trDoğumsal bağırsak taşıma defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-11DA90.1Especificvalidated
MONDO15178Evalidated
UMLSC5681747Evalidated

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 (3):

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