ORPHA:261956
Partial deletion of the short arm of chromosome 16 syndrome
Synonyms: Partial monosomy of the short arm of chromosome 16 · Partial deletion of chromosome 16p · Partial monosomy of chromosome 16p
- 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 16 syndrome | Partial monosomy of the short arm of chromosome 16 · Partial deletion of chromosome 16p · Partial monosomy of chromosome 16p |
| fr | Syndrome de délétion partielle du bras court du chromosome 16 | Délétion partielle du chromosome 16p · Monosomie partielle du bras court du chromosome 16 · Monosomie partielle du chromosome 16p |
| de | Chromosom 16p-Deletion, partielle | Chromosom 16, partielle Deletion des kurzen Arms · Partielle Monosomie 16p · Partielle Monosomie des kurzen Arms von Chromosom 16 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 16 | Deleción parcial del cromosoma 16p · Monosomía parcial del brazo corto del cromosoma 16 · Monosomía parcial del cromosoma 16p |
| it | Delezione parziale del braccio corto del cromosoma 16 | Delezione parziale del cromosoma 16p · Monosomia parziale del braccio corto del cromosoma 16 · Monosomia parziale del cromosoma 16p |
| nl | Partiële deletie van de korte arm van chromosoom 16-syndroom | Partiële deletie van chromosoom 16p · Partiële monosomie van chromosoom 16p · Partiële monosomie van de korte arm van chromosoom 16 |
| pt | Monossomia parcial do braço curto do cromossoma 16 | |
| pl | Zespół częściowej delecji krótkiego ramienia chromosomu 16 | Częściowa delecja chromosomu 16p · Cześciowa monosomia chromosomu 16p · Częściowa monosomia krótkiego ramienia chromosomu 16 |
| cs | Parciální delece krátkého raménka chromozomu 16 | Parciální delece chromozomu 16p · Parciální monozomie chromozomu 16p · Parciální monozomie krátkého raménka chromozomu 16 |
| uk | Часткова делеція короткого плеча хромосоми 16 | Часткова делеція хромосоми 16p · Часткова моносомія хромосоми 16p · Часткова моносомія короткого плеча хромосоми 16 |
| zh | 16号染色体短臂部分缺失 | 16号染色体短臂部分单体 |
| tr | 16. kromozomun kısa kolunun kısmi delesyonu | 16p kromozomunun kısmi delesyonu · 16p kromozomunun kısmi monozomisi · 16. kromozomun kısa kolunun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.G1 | E | specific | validated |
| MONDO | 0016894 | E | validated | |
| MONDO | 16894 | E | validated | |
| UMLS | C5679670 | 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:261826Partial deletion of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (8):
- ORPHA:26121116p11.2p12.2 microdeletion syndrome
- ORPHA:26123616p13.11 microdeletion syndrome
- ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:88924Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- ORPHA:261222Distal 16p11.2 microdeletion syndrome
- ORPHA:500055Hao-Fountain syndrome due to 16p13.2 microdeletion
- ORPHA:261197Proximal 16p11.2 microdeletion syndrome
- ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
4
Genes
0 directOrphanet records no gene directly on this code.
5
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/261956
- This record as JSON: /data/d/261956.json