ORPHA:294949
Non-syndromic joint formation defects
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic joint formation defects | |
| fr | Anomalie de formation des articulations non syndromique | |
| de | Gelenkfehlbildung, nicht-syndromale | |
| es | Defectos no sindrómicos de la formación articular | |
| it | Difetti nella formazione delle articolazioni non sindromico | |
| nl | Niet-syndromale defecten van gewrichtsvorming | |
| pt | Defeitos da formação das articulações não-sindrómico | |
| pl | Niesyndromiczne wady powstawania stawów | |
| cs | Poruchy formování kloubů | |
| uk | Несиндромальні дефекти формування суглобів | |
| zh | 关节构造畸形 | |
| tr | Eklem oluşum defektleri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LB90 | E | specific | validated |
| MONDO | 17429 | E | validated | |
| UMLS | C5925011 | 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 (3):
- 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:109011Non-syndromic limb malformation
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (7):
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294949
- This record as JSON: /data/d/294949.json