ORPHA:498457
Non-syndromic longitudinal limb defect
- 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 | Non-syndromic longitudinal limb defect | |
| fr | Anomalie réductionnelle longitudinale non syndromique des membres | |
| de | Extremitätendefekt, longitudinaler, nicht-syndromaler | |
| es | Defecto longitudinal de las extremidades no sindrómico | |
| it | Difetto longitudinale non sindromico degli arti | |
| nl | Niet-syndromaal longitudinaal ledemaatdefect | |
| pt | Defeito longitudinal dos membros não-sindrómico | |
| pl | Niesyndromiczna wada podłużna kończyny | |
| cs | Longitudinální defekt končetiny | |
| uk | Несиндромальний поздовжній дефект кінцівок | |
| zh | 纵向肢体缺损 | |
| tr | Boyuna ekstremite defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5925040 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93457Non-syndromic limb reduction defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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/498457
- This record as JSON: /data/d/498457.json