ORPHA:2357
Bronchogenic cyst
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
Congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bronchogenic cyst | |
| fr | Kyste bronchogénique | |
| de | Bronchogene Zyste | |
| es | Quiste broncogénico | |
| it | Cisti broncogene | |
| nl | Bronchogenische cyste | |
| pt | Quisto broncogénico | |
| pl | Torbiel bronchogenna | |
| cs | Bronchogenní cysta | |
| uk | Бронхогенна кіста | |
| zh | 支气管囊肿 | |
| tr | Bronkojenik kist |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | J98.4 | NTBT | attributed | validated |
| ICD-11 | CB40.Y | NTBT | index | validated |
| MONDO | 0016523 | E | validated | |
| MeSH | D001994 | E | validated | |
| UMLS | C0006281 | E | validated | |
| GARD | 1025 | E | validated | |
| MedDRA | 10064585 | 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 (1):
- ORPHA:649014Bronchial malformation
rare developmental anomalies during embryogenesis; rare respiratory diseases; rare surgical thoracic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
33 annotations · validated 2021-07-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100730 | Bronchogenic cyst | |
| Frequent (79-30%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0031983 | Abnormal pulmonary thoracic imaging finding | |
| Occasional (29-5%) | ||
| HP:0002031 | Abnormal esophagus morphology | |
| HP:0032016 | Abnormal sputum | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0100749 | Chest pain | |
| HP:0031035 | Chronic infection | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0001945 | Fever | |
| HP:0002090 | Pneumonia | |
| HP:0032445 | Pulmonary cyst | |
| Very rare (<4-1%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0001697 | Abnormal pericardium morphology | |
| HP:0002577 | Abnormal stomach morphology | |
| HP:0000775 | Abnormality of the diaphragm | |
| HP:0002699 | Abnormality of the foramen magnum | |
| HP:0000464 | Abnormality of the neck | |
| HP:0002585 | Abnormality of the peritoneum | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0100750 | Atelectasis | |
| HP:0003418 | Back pain | |
| HP:0002015 | Dysphagia | |
| HP:0010766 | Ectopic calcification | |
| HP:0002315 | Headache | |
| HP:0002105 | Hemoptysis | |
| HP:0001324 | Muscle weakness | |
| HP:0030833 | Neck pain | |
| HP:0003401 | Paresthesia | |
| HP:0003396 | Syringomyelia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25669636[PMID]_33093904[PMID]_30702626[PMID]_29081395[PMID]_28334597[PMID]_30725658[PMID]_12809250[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2357
- This record as JSON: /data/d/2357.json