ORPHA:294957
Dysostosis with combined reduction defects of upper and lower limbs
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysostosis with combined reduction defects of upper and lower limbs | |
| fr | Dysostose avec anomalies réductionnelles combinées des membres supérieurs et inférieurs | |
| de | Dysostose mit kombinierten Reduktionsdefekten der oberen und unteren Extremitäten | |
| es | Disostosis con defectos por reducción combinada de extremidades superiores e inferiores | |
| it | Disostosi con difetti di riduzione combinata degli arti superiori e inferiori | |
| nl | Dysostose met gecombineerde reductiedefecten van bovenste en onderste ledematen | |
| pt | Defeitos de redução combinada dos membros superiores e inferiores | |
| pl | Złożone wady skrócenia kończyn górnych i dolnych | |
| cs | Dysostóza s kombinovanými redukčními defekty horních a dolních končetin | |
| uk | Дизостоз з комбінованими редукційними дефектами верхніх і нижніх кінцівок | |
| zh | 骨质疏松症伴上下肢联合缺损 | |
| tr | Üst ve alt ekstremitelerde kombine redüksiyon defektleri ile seyreden disostoz |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD26.0 | E | specific | validated |
| MONDO | 17433 | E | validated | |
| UMLS | C5681000 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294957
- This record as JSON: /data/d/294957.json