ORPHA:1928
Congenital lobar emphysema
Synonyms: Congenital lobar hyperinflation · Infantile lobar hyperinflation
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Childhood, Infancy, Neonatal
- Status
- active
A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital lobar emphysema | Congenital lobar hyperinflation · Infantile lobar hyperinflation |
| fr | Emphysème lobaire congénital | |
| de | Emphysem, kongenitales lobäres | Kongenitale lobäre Überblähung |
| es | Enfisema lobar congénito | Hiperinsuflación lobar congénita · Hiperinsuflación lobar infantil |
| it | Enfisema lobare congenito | Iperinflazione lobare congenita · Iperinflazione lobare infantile |
| nl | Congenitaal lobair emfyseem | Congenitale lobaire hyperinflatie · Infantiele lobaire hyperinflatie |
| pt | Enfisema lobar congénito | |
| pl | Wrodzona rozedma płatowa | Dziecięca rozstrzeń płatowa · Wrodzona rozstrzeń płatowa |
| cs | Vrozený lobární emfyzém | Vrozená lobární hyperinflace · Kojenecká lobární hyperinflace |
| uk | Вроджена лобарна емфізема | Вроджена лобарна гіперінфляція · Інфантильна лобарна гіперінфляція |
| zh | 先天性肺叶气肿 | 先天性肺叶气肿 |
| tr | Doğumsal lober amfizem | İnfantil lober hiperinflasyon · Doğumsal lober hiperinflasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130710 | E | validated | |
| ICD-10 | Q33.8 | NTBT | attributed | validated |
| ICD-11 | LA75.5 | E | specific | validated |
| MONDO | 0007536 | E | validated | |
| MeSH | C535735 | E | validated | |
| UMLS | C0265797 | E | validated | |
| GARD | 2104 | E | validated | |
| MedDRA | 10010456 | 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 (3):
- ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical thoracic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Worldwide | Value and class | Validated | 24068262[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 24068262[PMID]_ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002097 | Emphysema | |
| HP:0002098 | Respiratory distress | |
| Frequent (79-30%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000961 | Cyanosis | |
| HP:0002094 | Dyspnea | |
| HP:6000012 | Mediastinal shift | |
| HP:0001649 | Tachycardia | |
| HP:0030828 | Wheezing | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0100750 | Atelectasis | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 38584784[PMID]_34189102[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1928
- This record as JSON: /data/d/1928.json