Congenital pseudoarthrosis of the fibula
Synonyms: Congenital pseudarthrosis of the fibula
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pseudoarthrosis of the fibula | Congenital pseudarthrosis of the fibula |
| fr | Pseudoarthrose congénitale de la fibula | Pseudarthrose congénitale de la fibula · Pseudoarthrose congénitale du péroné |
| de | Pseudarthrose der Fibula, kongenitale | |
| es | Pseudoartrosis congénita del peroné | |
| it | Pseudoartrosi congenita del perone | |
| nl | Congenitale pseudoartrose van fibula | Congenitale pseudartrose van fibula · Congenitale pseudoartrose van kuitbeen |
| pt | Pseudoartrose congénita da fíbula | |
| pl | Wrodzony staw rzekomy kości strzałkowej | = en |
| cs | Vrozená pseudoartróza fibuly | = en |
| uk | Вроджений псевдоартроз малогомілкової кістки | Вроджений псевдоартроз малогомілкової кістки |
| zh | 先天性腓骨假关节 | 先天性腓骨假关节 |
| tr | Doğumsal fibula psödoartrozu | Fibulanın 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 | 0017464 | E | validated | |
| UMLS | C5679935 | 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/295022
- This record as JSON: /data/d/295022.json