Tracheobronchopathia osteochondroplastica
Synonyms: Tracheopathia osteoplastica
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult, Childhood, Elderly
- Status
- active
A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tracheobronchopathia osteochondroplastica | Tracheopathia osteoplastica |
| fr | Trachéobronchopathie chondro-ostéoplastique | Trachéopathie ostéoplastique |
| de | Tracheobronchopathia osteochondroplastica | = en |
| es | Traqueobroncopatía osteocondroplástica | |
| it | Tracheobroncopatia osteocondroplastica | Tracheopatia osteoplastica |
| nl | Tracheobronchopathia osteochondroplastica | = en |
| pt | Traqueo-broncopatia osteocondroplásica | Traqueopatia osteoplásica |
| pl | Tracheobronchopatia osteochondroplastyczna | Tracheopatia osteoplastyczna |
| cs | Tracheobronchopatia osteochondroplastica | = en |
| uk | Остеохондропластична трахеобронхопатія | Остеопластична трахеопатія |
| zh | 骨化性气管支气管病 | 气管骨形成症 |
| tr | Trakeobronkopatia osteokondroplastika | Trakeopati osteoplastika |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 189961 | E | validated | |
| ICD-10 | J98.0 | NTBT | attributed | validated |
| ICD-11 | CA27.0 | E | specific | validated |
| MONDO | 0008587 | E | validated | |
| MeSH | C536977 | E | validated | |
| UMLS | C0520538 | E | validated | |
| GARD | 5235 | 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:101944Rare pulmonary disease
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 400 cases | Worldwide | Case(s) | Validated | 24865333[PMID] |
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
23 annotations · validated 2021-01-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031245 | Productive cough | |
| HP:0002787 | Tracheal calcification | |
| Frequent (79-30%) | ||
| HP:0025426 | Abnormal bronchus morphology | |
| HP:0032016 | Abnormal sputum | |
| HP:0005607 | Abnormal tracheobronchial morphology | |
| HP:0012387 | Bronchitis | |
| HP:0100593 | Calcification of cartilage | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001945 | Fever | |
| HP:0002090 | Pneumonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002777 | Tracheal stenosis | |
| HP:0002781 | Upper airway obstruction | |
| Occasional (29-5%) | ||
| HP:0100749 | Chest pain | |
| HP:0031352 | Chest tightness | |
| HP:0100633 | Esophagitis | |
| HP:0002105 | Hemoptysis | |
| HP:0001609 | Hoarse voice | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0010307 | Stridor | |
| HP:0030828 | Wheezing | |
| Very rare (<4-1%) | ||
| HP:0100750 | Atelectasis | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33183038[PMID]_2509829[PMID]_31171132[PMID]_32339049[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3348
- This record as JSON: /data/d/3348.json