Choledochal cyst
Synonyms: Congenital cystic dilatation of the biliary tract
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choledochal cyst | Congenital cystic dilatation of the biliary tract |
| fr | Kyste du cholédoque | Dilatation kystique congénitale de la voie biliaire |
| de | Choledochuszyste | Gallengangszyste · Kongenitale zystische Aussackung des Gallenganges |
| es | Quiste de colédoco | Dilatación quística congénita del tracto biliar |
| it | Cisti del coledoco | |
| nl | Choledochuscyste | Congenitale cystische dilatatie van de galwegen |
| pt | Quisto do colédoco | |
| pl | Torbiel przewodu żółciowego wspólnego | Wrodzone torbielowate poszerzenie przewodów żółciowych |
| cs | Cysta choledochu | Congenital cystic dilatation of the biliary tract · Vrozená cystická dilatace žlučových cest |
| uk | Кіста холедоха | Вроджене кістозне розширення жовчовивідних шляхів |
| zh | 胆总管囊肿 | 胆道先天性囊肿性扩张 |
| tr | Koledok kisti | Safra yolunun doğumsal kistik dilatasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q44.4 | E | specific | validated |
| ICD-11 | LB20.20 | E | specific | validated |
| MONDO | 0018805 | E | validated | |
| MONDO | 18805 | E | validated | |
| MeSH | D015529 | E | validated | |
| UMLS | C0008340 | 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:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 32491694[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480501
- This record as JSON: /data/d/480501.json