ORPHA:109011
Non-syndromic limb malformation
- 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 limb malformation | |
| fr | Anomalie non syndromique des membres | |
| de | Extremitätenfehlbildung, nicht-syndromale | |
| es | Malformación no sindrómica de las extremidades | |
| it | Malformazione non sindromica degli arti | |
| nl | Niet-syndromale ledematenmalformatie | |
| pt | Malformação dos membros não-sindromática | |
| pl | Niesyndromiczna malformacja kończyn | |
| cs | Nesyndromické malformace končetin | |
| uk | Несиндромальна вада розвитку кінцівок | |
| zh | 非综合征性肢体畸形 | |
| tr | Sendromik olmayan ekstremite malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15227 | E | validated | |
| UMLS | C5681749 | E | validated | |
| GARD | 19872 | 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 (2):
- ORPHA:68378Congenital limb malformation
rare developmental anomalies during embryogenesis - ORPHA:183536Genetic congenital limb malformation
rare genetic diseases
Children (9):
- ORPHA:364198Bipartite talus
- ORPHA:294944Congenital deformities of limbs
- ORPHA:294951Congenital joint dislocations
- ORPHA:86789Isolated patella aplasia/hypoplasia
- ORPHA:157808Isolated pseudoarthrosis of the limbs
- ORPHA:294949Non-syndromic joint formation defects
- ORPHA:294953Non-syndromic limb overgrowth
- ORPHA:93457Non-syndromic limb reduction defect
- ORPHA:93458Non-syndromic polydactyly, syndactyly and/or hyperphalangy
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/109011
- This record as JSON: /data/d/109011.json