ORPHA:2040
Congenital respiratory-biliary fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital respiratory-biliary fistula | |
| fr | Fistule congénitale entre voix respiratoires et canaux biliaires | |
| de | Fistel, broncho-biliäre kongenitale | |
| es | Fístula respiratorio-biliar congénita | |
| it | Fistola broncobiliare congenita | |
| nl | Congenitale respiratoire-biliaire fistel | |
| pt | Fístula bronco-biliar congénita | |
| pl | Wrodzona przetoka oskrzelowo-żółciowa | |
| cs | Vrozená bronchobiliární píštěl | |
| uk | Вроджена бронхобіліарна нориця | |
| zh | 先天性呼吸道-胆道瘘 | |
| tr | Doğumsal solunum-safra fistülü |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q32.4 | NTBT | attributed | validated |
| ICD-11 | LA74.Y | NTBT | index | validated |
| MONDO | 0016080 | E | validated | |
| UMLS | C5231000 | E | validated | |
| GARD | 1475 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 21516501[PMID]_19586763[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0002777 | Tracheal stenosis | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2040
- This record as JSON: /data/d/2040.json