ORPHA:108993
Non-syndromic respiratory or mediastinal malformation
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic respiratory or mediastinal malformation | |
| fr | Malformation non syndromique de l'appareil respiratoire ou du médiastin | |
| de | Fehlbildung des respiratorischen Systems oder des Mediastinums, nicht-syndromale | |
| es | Malformación respiratoria o mediastinal no sindrómica | |
| it | Malformazione respiratoria o del mediastino non sindromica | |
| nl | Niet-syndromale respiratoire of mediastinale malformatie | |
| pt | Malformação respiratória ou do mediastino não-sindromática | |
| pl | Niesyndromiczna malformacja układu oddechowego lub śródpiersia | |
| cs | Nesyndromické respirační nebo mediastinální malformace | |
| uk | Несиндромальна респіраторна або медіастинальна вада розвитку | |
| zh | 非综合征性呼吸或纵隔畸形 | |
| tr | Sendromik olmayan solunum veya mediyastinal malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15221 | E | validated | |
| UMLS | C5681753 | E | validated | |
| GARD | 19867 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183554Genetic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:97962Rare surgical thoracic disease
rare surgical thoracic diseases - ORPHA:98045Respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis
Children (22):
- ORPHA:649014Bronchial malformation
- ORPHA:70589Bronchopulmonary dysplasia
- ORPHA:700286Congenital high airway obstruction syndrome
- ORPHA:1928Congenital lobar emphysema
- ORPHA:2444Congenital pulmonary airway malformation
- ORPHA:2414Congenital pulmonary lymphangiectasia
- ORPHA:3161Congenital pulmonary sequestration
- ORPHA:2040Congenital respiratory-biliary fistula
- ORPHA:95430Congenital tracheomalacia
- ORPHA:1305Feingold syndrome
- ORPHA:994Fetal akinesia deformation sequence
- ORPHA:454750Isolated tracheoesophageal fistula
- ORPHA:2407Laryngo-onycho-cutaneous syndrome
- ORPHA:2004Laryngotracheoesophageal cleft
- ORPHA:1486Lethal congenital contracture syndrome type 1
- ORPHA:1120Lung agenesis-heart defect-thumb anomalies syndrome
- ORPHA:2470Matthew-Wood syndrome
- ORPHA:2257Primary pulmonary hypoplasia
- ORPHA:984Pulmonary agenesis
- ORPHA:2038Pulmonary arteriovenous malformation
- ORPHA:3346Tracheal agenesis
- ORPHA:411501Williams-Campbell syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/108993
- This record as JSON: /data/d/108993.json