ORPHA:262977
Partial duplication of the long arm of chromosome 18 syndrome
Synonyms: Partial duplication of chromosome 18q · Partial trisomy of chromosome 18q · Partial trisomy of the long arm of chromosome 18
- 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 | Partial duplication of the long arm of chromosome 18 syndrome | Partial duplication of chromosome 18q · Partial trisomy of chromosome 18q · Partial trisomy of the long arm of chromosome 18 |
| fr | Syndrome de duplication partielle du bras long du chromosome 18 | Duplication partielle du chromosome 18q · Trisomie partielle du bras long du chromosome 18 · Trisomie partielle du chromosome 18q |
| de | Partielle Duplikation des langen Arms von Chromosom 18 | Chromosom 18q-Duplikation, partielle · Partielle Duplikation 18q |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 18 | Duplicación parcial del cromosoma 18q · Trisomía parcial del brazo largo del cromosoma 18 · Trisomía parcial del cromosoma 18q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 18 | Trisomia parziale del braccio lungo del cromosoma 18 · Duplicazione parziale del cromosoma 18q · Trisomia parziale del cromosoma 18q |
| nl | Partiële duplicatie van de lange arm van chromosoom 18-syndroom | Partiële duplicatie van chromosoom 18q · Partiële trisomie van chromosoom 18q · Partiële trisomie van de lange arm van chromosoom 18 |
| pt | Duplicação parcial do braço longo do cromossoma 18 | Duplicação parcial do cromossoma 18q · Trissomia parcial do braço longo do cromossoma 18 · Trissomia parcial do cromossoma 18q |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 18 | Częściowa duplikacja chromosomu 18q · Częściowa duplikacja długiego ramienia chromosomu 18 · Częściowa trisomia chromosomu 18q |
| cs | Parciální trizomie dlouhého raménka chromozomu 18 | Parciální duplikace 18q · Parciální duplikace dlouhého raménka chromozomu 18 · Parciální trizomie 18q |
| uk | Часткова дуплікація довгого плеча хромосоми 18 | Часткова дуплікація хромосоми 18q · Часткова трисомія хромосоми 18q · Часткова трисомія довгого плеча хромосоми 18 |
| zh | 18号染色体长臂部分三体 | 18号染色体长臂部分重复 |
| tr | 18. kromozomun uzun kolunun kısmi trizomisi | 18q kromozomunun kısmi trizomisi · 18q kromozomunun kısmi duplikasyonu · 18. Kromozomun uzun kolunun kısmi duplikasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.H0 | NTBT | specific | validated |
| MONDO | 0016968 | E | validated | |
| MONDO | 16968 | E | validated | |
| UMLS | C5679697 | 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:262682Partial duplication/triplication of chromosome 18 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (1):
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/262977
- This record as JSON: /data/d/262977.json