ORPHA:498461
Non-syndromic terminal transverse 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 terminal transverse limb defect | |
| fr | Anomalie réductionnelle transverse non syndromique des membres | |
| de | Extremitätendefekt, terminaler transversaler, nicht-syndromaler | |
| es | Defecto transverso terminal de las extremidades no sindrómico | |
| it | Difetto trasversale non sindromico della porzione terminale degli arti | |
| nl | Niet-syndromaal terminaal transversaal ledemaatdefect | |
| pt | Defeito terminal transverso do membro não-sindrómico | |
| pl | Niesyndromiczna wada poprzeczna końcowego odcinka kończyny | |
| cs | Terminální příčný defekt končetiny | |
| uk | Несиндромальний кінцевий поперечний дефект кінцівки | |
| zh | 末端横断性肢体缺陷 | |
| tr | Terminal enine ekstremite defekti |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5925039 | 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
Codes that Orphanet moved or referred to this one:
- ORPHA:1034OBSOLETE: Amniotic bands referred to · inactive
- ORPHA:93937OBSOLETE: Terminal transverse defects of arm referred to · inactive
- ORPHA:294990OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb referred to · inactive
- ORPHA:295114OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral referred to · inactive
- ORPHA:295116OBSOLETE: Adactyly of foot, unilateral referred to · inactive
- ORPHA:295118OBSOLETE: Adactyly of foot, bilateral referred to · inactive
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/498461
- This record as JSON: /data/d/498461.json