ORPHA:411501
Williams-Campbell syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Childhood
- Status
- active
A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Williams-Campbell syndrome | |
| fr | Syndrome de Williams-Campbell | |
| de | Williams-Campbell-Syndrom | |
| es | Síndrome de Williams-Campbell | |
| it | Sindrome di Williams-Campbell | |
| nl | Syndroom van Williams-Campbell | |
| pt | Síndrome de Williams -Campbell | |
| pl | Zespół Williamsa i Campbella | |
| cs | Williamsův-Campbellův syndrom | Williams-Campbellův syndrom |
| uk | Синдром Вільямса-Кемпбелла | |
| zh | 威廉-坎贝尔综合征 | |
| tr | Williams-Campbell sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q32.2 | NTBT | attributed | validated |
| ICD-11 | LA74.Y | NTBT | index | validated |
| MONDO | 0008888 | E | validated | |
| UMLS | C0340231 | 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 (2):
- ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic 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
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411501
- This record as JSON: /data/d/411501.json