Primary intrahepatic lithiasis
Synonyms: PIHL · Primary hepatolithiasis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary intrahepatic lithiasis | PIHL · Primary hepatolithiasis |
| fr | Lithiase intrahépatique primitive | Hépatolithiase primitive |
| de | Intrahepatische Lithiasis, primäre | Hepatolithiasis, primäre · PIHL |
| es | Litiasis intrahepática primaria | Hepatolitiasis primaria · LIP |
| it | Litiasi intraepatica primitiva | |
| nl | Primaire intrahepatische lithiasis | PIHL |
| pt | Lítiase intrahepática primária | |
| pl | Pierwotna kamica wewnątrzwątrobowa | PIHL |
| cs | Primární intrahepatální lithiáza | PIHL · Primary hepatolithiasis · Primární hepatolithiáza |
| uk | Первинний внутрішньопечінковий літіаз | PIHL · Первинний гепатолітіаз |
| zh | 原发性肝内结石 | 原发性肝内胆管结石病 |
| tr | Primer intrahepatik litiyazis | PIHL · primer hepatolithiasis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K80.3 | NTBT | attributed | validated |
| ICD-11 | DC11.7 | NTBT | attributed | validated |
| MONDO | 0018806 | E | validated | |
| UMLS | C5576557 | 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 (1):
- ORPHA:101941Rare biliary tract 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/480506
- This record as JSON: /data/d/480506.json