Combined pulmonary fibrosis-emphysema syndrome
Synonyms: CPFE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined pulmonary fibrosis-emphysema syndrome | CPFE |
| fr | Syndrome d'emphysème-fibrose pulmonaire combinés | CPFE · Syndrome combiné d'emphysème des sommets-fibrose pulmonaire des bases |
| de | Kombiniertes pulmonales fibrosierendes Emphysem-Syndrom | = en |
| es | Síndrome combinado enfisema-fibrosis pulmonar | = en |
| it | Sindrome fibrosi polmonare-enfisema combinati | = en |
| nl | Gecombineerde pulmonale fibrose-emfyseem-syndroom | = en |
| pt | Síndrome combinada de fibrose pulmonar com enfisema | |
| pl | Zespół współistnienia włóknienia i rozedmy płuc | = en |
| cs | Syndrom kombinované pulmonární fibrózy a emfyzému | = en |
| uk | Комбінований синдром легеневого фіброзу-емфіземи | = en |
| zh | 肺纤维化-肺气肿综合征 | 肺纤维化-肺气肿综合征 |
| tr | Kombine pulmoner fibrozis-amfizem sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | J84.1 | NTBT | attributed | validated |
| ICD-11 | CB03.1 | E | specific | validated |
| MONDO | 0017591 | E | validated | |
| UMLS | C3872815 | E | validated | |
| MedDRA | 10076515 | 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:98300Idiopathic interstitial pneumonia
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/300564
- This record as JSON: /data/d/300564.json