ORPHA:108995
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 | Syndromic respiratory or mediastinal malformation | |
| fr | Malformation syndromique de l'appareil respiratoire ou du médiastin | |
| de | Fehlbildung des respiratorischen Systems oder des Mediastinums, syndromale Formen | |
| es | Malformación respiratoria o mediastinal sindrómica | |
| it | Malformazione respiratoria o del mediastino sindromica | |
| nl | Syndromale respiratoire of mediastinale malformatie | |
| pt | Malformação respiratória ou do mediastino sindromática | |
| pl | Syndromiczna malformacja układu oddechowego lub śródpiersia | |
| cs | Syndromické respirační nebo mediastinální malformace | |
| uk | Синдромальна респіраторна або медіастинальна вада розвитку | |
| zh | 综合征性呼吸或纵隔畸形 | |
| tr | Sendromik solunum veya mediyastinal malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15222 | E | validated | |
| UMLS | C5681752 | E | validated | |
| GARD | 19868 | 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:97962Rare surgical thoracic disease
rare surgical thoracic diseases - ORPHA:98045Respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis
Children (7):
- ORPHA:994Fetal akinesia deformation sequence
- ORPHA:3035Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:2407Laryngo-onycho-cutaneous syndrome
- ORPHA:1486Lethal congenital contracture syndrome type 1
- ORPHA:1120Lung agenesis-heart defect-thumb anomalies syndrome
- ORPHA:2470Matthew-Wood syndrome
- ORPHA:2745Opitz GBBB 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/108995
- This record as JSON: /data/d/108995.json