Congenital pseudoarthrosis of the femur
Synonyms: Congenital pseudarthrosis of the femur
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pseudoarthrosis of the femur | Congenital pseudarthrosis of the femur |
| fr | Pseudoarthrose congénitale du fémur | Pseudarthrose congénitale du fémur |
| de | Pseudarthrose des Femurs, kongenitale | |
| es | Pseudoartrosis congénita del fémur | |
| it | Pseudoartrosi congenita del femore | |
| nl | Congenitale pseudoartrose van femur | Congenitale pseudartrose van femur · Congenitale pseudoartrose van dijbeen |
| pt | Pseudoartrose congénita do fémur | |
| pl | Wrodzony staw rzekomy kości udowej | = en |
| cs | Vrozená pseudoartróza femuru | = en |
| uk | Вроджений псевдоартроз стегнової кістки | Вроджений псевдоартроз стегнової кістки |
| zh | 先天性股骨假关节 | 先天性股骨假关节 |
| tr | Doğumsal femur psödoartrozu | Femurun doğumsal psödoartrozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.2 | NTBT | attributed | validated |
| ICD-11 | LB9Y | NTBT | attributed | validated |
| MONDO | 0017463 | E | validated | |
| UMLS | C5679939 | 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:157808Isolated pseudoarthrosis of the limbs
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295020
- This record as JSON: /data/d/295020.json