Congenital pseudoarthrosis of the radius
Synonyms: Congenital pseudarthrosis of the radius
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pseudoarthrosis of the radius | Congenital pseudarthrosis of the radius |
| fr | Pseudoarthrose congénitale du radius | Pseudarthrose congénitale du radius |
| de | Pseudarthrose des Radius, kongenitale | |
| es | Pseudoartrosis congénita del radio | |
| it | Pseudoartrosi congenita del radio | |
| nl | Congenitale pseudoartrose van radius | Congenitale pseudoartrose van spaakbeen · Congenitale pseudartrose van radius |
| pt | Pseudoartrose congénita do rádio | |
| pl | Wrodzony staw rzekomy kości promieniowej | = en |
| cs | Vrozená pseudoartróza radia | = en |
| uk | Вроджений псевдоартроз променевої кістки | Вроджений псевдоартроз променевої кістки |
| zh | 先天性桡骨假关节 | 先天性桡骨假关节 |
| tr | Doğumsal radius psödoartrozu | Radiusun doğumsal psödoartrozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB9Y | NTBT | attributed | validated |
| MONDO | 0017465 | E | validated | |
| UMLS | C5679936 | 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/295024
- This record as JSON: /data/d/295024.json