ORPHA:261974
Partial deletion of the short arm of chromosome 18 syndrome
Synonyms: Partial deletion of chromosome 18p · Partial monosomy of chromosome 18p · Partial monosomy of the short 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 deletion of the short arm of chromosome 18 syndrome | Partial deletion of chromosome 18p · Partial monosomy of chromosome 18p · Partial monosomy of the short arm of chromosome 18 |
| fr | Syndrome de délétion partielle du bras court du chromosome 18 | Délétion partielle du chromosome 18p · Monosomie partielle du bras court du chromosome 18 · Monosomie partielle du chromosome 18p |
| de | Chromosom 18p-Deletion, partielle | Chromosom 18, partielle Deletion des kurzen Arms · Partielle Monosomie 18p · Partielle Monosomie des kurzen Arms von Chromosom 18 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 18 | Deleción parcial del cromosoma 18p · Monosomía parcial del brazo corto del cromosoma 18 · Monosomía parcial del cromosoma 18p |
| it | Sindrome delezione parziale del braccio corto del cromosoma 18 | Delezione parziale del cromosoma 18p · Monosomia parziale del braccio corto del cromosoma 18 · Monosomia parziale del cromosoma 18p |
| nl | Partiële deletie van de korte arm van chromosoom 18-syndroom | Partiële deletie van chromosoom 18p · Partiële monosomie van chromosoom 18p · Partiële monosomie van de korte arm van chromosoom 18 |
| pt | Monossomia parcial do braço curto do cromossoma 18 | |
| pl | Zespół częściowej delecji krótkiego ramienia chromosomu 18 | Częściowa delecja chromosomu 18p · Cześciowa monosomia chromosomu 18p · Częściowa monosomia krótkiego ramienia chromosomu 18 |
| cs | Parciální delece krátkého raménka chromozomu 18 | Parciální delece chromozomu 18p · Parciální monozomie chromozomu 18p · Parciální monozomie krátkého raménka chromozomu 18 |
| uk | Часткова делеція короткого плеча хромосоми 18 | Часткова делеція хромосоми 18p · Часткова моносомія хромосоми 18p · Часткова моносомія короткого плеча хромосоми 18 |
| zh | 18号染色体短臂部分缺失 | 18号染色体短臂部分单体 |
| tr | 18. kromozomun kısa kolunun kısmi delesyonu | 18p kromozomunun kısmi delesyonu · 18p kromozomunun kısmi monozomisi · 18. kromozomun kısa kolunun kısmi monozomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.J1 | E | specific | validated |
| MONDO | 7800 | E | validated | |
| UMLS | C5848132 | 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:261836Partial deletion 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/261974
- This record as JSON: /data/d/261974.json