Isolated agenesis of gallbladder
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated agenesis of gallbladder | |
| fr | Agénésie isolée de la vésicule biliaire | |
| de | Gallenblasenagenesie, isolierte | |
| es | Agenesia aislada de la vesícula biliar | |
| it | Agenesia isolata della cistifellea | |
| nl | Geïsoleerde agenesie van galblaas | |
| pt | Agenesia isolada da vesicula biliar | |
| pl | Izolowana agnezja pęcherzyka żółciowego | |
| cs | Izolovaná ageneze žlučníku | |
| uk | Ізольована агенезія жовчного міхура | |
| zh | 孤立性胆囊发育不良 | |
| tr | Safra kesesinin izole agenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q44.0 | NTBT | inclusion | validated |
| ICD-11 | LB20.10 | NTBT | index | validated |
| MONDO | 0007642 | E | validated | |
| MeSH | C562564 | E | validated | |
| UMLS | C0266251 | E | validated | |
| MedDRA | 10079018 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Worldwide | Value and class | Validated | 23337680[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/440987
- This record as JSON: /data/d/440987.json