raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:104013

Metabolic disease with intestinal involvement

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
enMetabolic disease with intestinal involvement
frMaladie métabolique avec atteinte intestinale
deStoffwechselkrankheit mit Darmbeteiligung
esEnfermedad metabólica con afectación intestinal
itMalattia metabolica con coinvolgimento intestinale
nlStofwisselingsziekte met betrokkenheid van darm
ptDoença metabólica com envolvimento intestinal
plChoroba metaboliczna obejmująca jelita
csMetabolické onemocnění s postižením střeva
ukМетаболічні захворювання з ураженням кишечника
zh肠受累代谢性疾病
trBağırsak tutulumu ile seyreden metabolik hastalık
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO15188Evalidated
UMLSC5681740Evalidated
GARD19850Evalidated

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 (2):

Children (4):

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