Isolated congenital hepatic fibrosis
Synonyms: Isolated CHF
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital hepatic fibrosis | Isolated CHF |
| fr | Fibrose congénitale hépatique isolée | FHC isolée |
| de | Leberfibrose, isolierte, kongenitale | Isolierte CHF · Isolierte kongenitale hepatische Fibrose |
| es | Fibrosis hepática congénita aislada | FHC aislada |
| it | Fibrosi epatica congenita isolata | |
| nl | Geïsoleerde congenitale hepatische fibrose | Geïsoleerde CHF |
| pt | Fibrose hepática isolada congénita | |
| pl | Izolowane wrodzone włóknienie wątroby | Izolowane CHF |
| cs | Izolovaná kongenitální jaterní fibróza | = en |
| uk | Ізольований вроджений фіброз печінки | Ізольована CHF |
| zh | 单发先天性肝硬化 | = en |
| tr | İzole doğumsal hepatik fibroz | İzole CHF |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q44.6 | NTBT | attributed | validated |
| ICD-11 | LB20.00 | NTBT | attributed | validated |
| MONDO | 0018840 | E | validated | |
| MeSH | C562378 | E | validated | |
| UMLS | C0009714 | E | validated | |
| MedDRA | 10056533 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/485426
- This record as JSON: /data/d/485426.json