Congenital chylothorax
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital chylothorax | |
| fr | Chylothorax congénital | |
| de | Chylothorax, kongenitale | |
| es | Quilotórax congénito | |
| it | Chilotorace congenito | |
| nl | Congenitale chylothorax | |
| pt | Quilotórax congénito | |
| pl | Chłonkotok wrodzony | |
| cs | Vrozený chylotorax | |
| uk | Вроджений хілоторакс | |
| zh | 先天性乳糜胸 | |
| tr | Doğumsal şilotoraks |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603523 | E | validated | |
| ICD-10 | J94.0 | NTBT | attributed | validated |
| ICD-11 | CB04.1 | NTBT | index | validated |
| MONDO | 0011331 | E | validated | |
| MeSH | C535461 | E | validated | |
| UMLS | C0340014 | E | validated | |
| GARD | 10156 | E | validated | |
| MedDRA | 10078770 | 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:264683Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
rare respiratory diseases; rare transplant-related disorders
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 | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4.17 / 100 000 | Germany | Value and class | Validated | 25480460[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/264688
- This record as JSON: /data/d/264688.json