raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:284385

Familial intrahepatic cholestasis

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
enFamilial intrahepatic cholestasis
frCholestase intrahépatique familiale
deCholestase, intrahepatische, familiäre Form
esColestasis intrahepática familiar
itColestasi intraepatica familiare
nlFamiliale intrahepatische cholestase
ptColestase intra-hepática familiar
plRodzinna cholestaza wewnątrzwątrobowa
csFamiliární intrahepatální cholestáza
ukСімейний внутрішньопечінковий холестаз
zh家族性肝内胆汁淤积症
trAilesel intrahepatik kolestaz
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0017290Evalidated
MONDO17290Evalidated

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

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