ORPHA:2444
Congenital pulmonary airway malformation
Synonyms: CCAM · CPAM · Congenital cystic adenomatoid malformation of the lung · Congenital cystic adenomatous malformation of the lung · Congenital cystic disease of the lung
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Antenatal, Neonatal
- Status
- active
A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pulmonary airway malformation | CCAM · CPAM · Congenital cystic adenomatoid malformation of the lung · Congenital cystic adenomatous malformation of the lung · Congenital cystic disease of the lung |
| fr | Malformation congénitale des voies aériennes pulmonaires | CCAM · CPAM · MAKP · MCVAP · Maladie adénomatoïde kystique du poumon · Malformation adénomatoïde kystique du poumon |
| de | Kongenitale Fehlbildung der Atemwege | CCAM · CPAM · Kongenitale zystische Krankheit der Lunge · Kongenitale zystische adenomatoide Fehlbildung der Lunge |
| es | Malformación congénita de las vías aéreas pulmonares | CCAM · CPAM · Enfermedad quística congénita del pulmón · Malformación adenomatoide quística congénita del pulmón |
| it | Malformazione congenita delle vie aeree polmonari | CCAM · CPAM · Malattia cistica congenita del polmone · Malformazione adenomatoide cistica congenita del polmone |
| nl | Congenitale malformatie van pulmonale luchtwegen | CCAM · CPAM · Congenitale cystische adenomateuze malformatie van long · Congenitale cystische ziekte van long |
| pt | Malformação das vias aéreas pulmonares congénita | Malformação adenomatóide quística do pulmão |
| pl | Wrodzona malformacja dróg oddechowych w płucach | CCAM |
| cs | Vrozené vývojové vady dýchacích cest | CCAM · CPAM · Vrozená cystická adenomatoidní malformace plic |
| uk | Вроджена вада розвитку легеневих дихальних шляхів | CCAM · Вроджена кістозна аденоматоїдна мальформація легень · Вроджена кістозно-аденоматозна мальформація легень · Вроджена кістозна хвороба легень · CPAM |
| zh | 先天性肺呼吸道畸形 | 先天性肺囊性腺瘤样畸形 |
| tr | Doğumsal pulmoner hava yolu malformasyonu | CCAM · CPAM · Akciğerin doğumsal kistik hastalığı · Akciğerin doğumsal kistik adenomatoid malformasyonu · Akciğerin doğumsal kistik adenomatöz malformasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q33.0 | NTBT | attributed | validated |
| ICD-11 | LA75.4 | E | specific | validated |
| MONDO | 0016580 | E | validated | |
| MeSH | D015615 | E | validated | |
| UMLS | C0010668 | E | validated | |
| MedDRA | 10087693 | 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:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
Children (5):
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
15 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 8.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.7 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.2 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.1 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.9 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.3 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.1 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Point prevalence | Unknown | — | Europe | Class only | 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.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| Occasional (29-5%) | ||
| HP:0002103 | Abnormality of the pleura | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2444
- This record as JSON: /data/d/2444.json