ORPHA:180779
Syndromic diaphragmatic or thoracic 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 diaphragmatic or thoracic malformation | |
| fr | Malformation syndromique du diaphragme ou du thorax | |
| de | Zwerchfell- oder Thorax-Fehlbildung, syndromale | |
| es | Malformación torácica o diafragmática sindrómica | |
| it | Malformazione diaframmatica o toracica sindromica | |
| nl | Syndromale diafragma- of thoraxmalformatie | |
| pt | Malformação sindromática diafragmática ou torácica | |
| pl | Syndromiczna malformacja przepony lub klatki piersiowej | |
| cs | Syndromická brániční nebo hrudní malformace | |
| uk | Синдромальна діафрагмальна або грудна вада розвитку | |
| zh | 综合征性横膈或胸廓畸形 | |
| tr | Sendromik diyafram veya torasik malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15880 | E | validated | |
| UMLS | C5680469 | 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 (1):
- ORPHA:97962Rare surgical thoracic disease
rare surgical thoracic diseases
Children (17):
- ORPHA:287Classical Ehlers-Danlos syndrome
- ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:199Cornelia de Lange syndrome
- ORPHA:209Cutis laxa
- ORPHA:2141Diaphragmatic defect-limb deficiency-skull defect syndrome
- ORPHA:527468Diaphragmatic hernia-short bowel-asplenia syndrome
- ORPHA:2143Donnai-Barrow syndrome
- ORPHA:96170Emanuel syndrome
- ORPHA:2322Kabuki syndrome
- ORPHA:480528Lethal hydranencephaly-diaphragmatic hernia syndrome
- ORPHA:2470Matthew-Wood syndrome
- ORPHA:496693Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
- ORPHA:991PAGOD syndrome
- ORPHA:884Pallister-Killian syndrome
- ORPHA:1335Pentalogy of Cantrell
- ORPHA:373Simpson-Golabi-Behmel syndrome
- ORPHA:280Wolf-Hirschhorn 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/180779
- This record as JSON: /data/d/180779.json