ORPHA:294927
Non-syndromic intercalary limb defects
Synonyms: Non-syndromic intercalary meromelia
- Type
- Clinical group
- 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 intercalary limb defects | Non-syndromic intercalary meromelia |
| fr | Anomalie réductionnelle intercalaire des membres non syndromique | Méromélie intercalaire non syndromique |
| de | Extremitätendefekt, interkalarer, nicht-syndromaler | Meromelie, interkalare, nicht-syndromale |
| es | Defectos intercalares de las extremidades no sindrómicos | Meromelia intercalar no sindrómica |
| it | Difetti intercalari degli arti non sindromici | Meromelia intercalare · Meromelia intercalare non sindromica |
| nl | Niet-syndromale intercalaire ledemaatdefecten | Niet-syndromale intercalaire meromelie |
| pt | Defeitos intercalares dos membros não-sindrómico | Meromelia intercalar não-sindrómica |
| pl | Niesyndromiczne wady środkowego odcinka kończyn | = en |
| cs | Interkalární defekty končetin | Interkalární meromelie |
| uk | Несиндромальні інтеркалярні дефекти кінцівок | Несиндромна інтеркалярна меромелія |
| zh | 肢体间断性残缺 | 先天性短骨 |
| tr | İnterkalar ekstremite defektleri | İnterkalar meromeli |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17420 | E | validated | |
| UMLS | C5925014 | 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 (1):
- ORPHA:93457Non-syndromic limb reduction defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (6):
- ORPHA:294977Isolated absence of thigh and lower leg with foot present
- ORPHA:294975Isolated absence of upper arm and forearm with hand present
- ORPHA:667589Isolated congenital femoral bifurcation
- ORPHA:1987Isolated femoral agenesis/hypoplasia
- ORPHA:294973Isolated humeral agenesis/hypoplasia
- ORPHA:633228Isolated proximal femoral focal deficiency
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/294927
- This record as JSON: /data/d/294927.json