Congenital pseudoarthrosis of the ulna
Synonyms: Congenital pseudarthrosis of the ulna
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
A rare bone development disorder characterized by abnormal bowing of the ulna 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 concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pseudoarthrosis of the ulna | Congenital pseudarthrosis of the ulna |
| fr | Pseudoarthrose congénitale de l'ulna | Pseudarthrose congénitale de l'ulna · Pseudoarthrose congénitale du cubitus |
| de | Pseudarthrose der Ulna, kongenitale | |
| es | Pseudoartrosis congénita del cúbito | |
| it | Pseudoartrosi congenita dell'ulna | |
| nl | Congenitale pseudoartrose van ulna | Congenitale pseudartrose van ulna · Congenitale pseudoartrose van ellepijp |
| pt | Pseudoartrose congénita do cúbito | |
| pl | Wrodzony staw rzekomy kości łokciowej | = en |
| cs | Vrozená pseudoartróza ulny | = en |
| uk | Вроджений псевдоартроз ліктьового суглоба | Вроджений псевдоартроз ліктьового суглоба |
| zh | 先天性尺骨假关节 | 先天性尺骨假关节 |
| tr | Doğumsal Ulna psödoartrozu | Ulnanın 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 | 0017466 | E | validated | |
| UMLS | C5679937 | 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/295026
- This record as JSON: /data/d/295026.json