ORPHA:261911
Partial deletion of the short arm of chromosome 7 syndrome
Synonyms: Partial deletion of chromosome 7p · Partial monosomy of chromosome 7p · Partial monosomy of the short arm of chromosome 7
- Type
- Category
- Group
- Group of disorders
- Age of onset
- Antenatal
- 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 | Partial deletion of the short arm of chromosome 7 syndrome | Partial deletion of chromosome 7p · Partial monosomy of chromosome 7p · Partial monosomy of the short arm of chromosome 7 |
| fr | Syndrome de délétion partielle du bras court du chromosome 7 | Délétion partielle du chromosome 7p · Monosomie partielle du bras court du chromosome 7 · Monosomie partielle du chromosome 7p |
| de | Chromosom 7p-Deletion, partielle | Chromosom 7, partielle Deletion des kurzen Arms · Partielle Monosomie 7p · Partielle Monosomie des kurzen Arms von Chromosom 7 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 7 | Deleción parcial del cromosoma 7p · Monosomía parcial del brazo corto del cromosoma 7 · Monosomía parcial del cromosoma 7p |
| it | Sindrome delezione parziale del braccio corto del cromosoma 7 | Delezione parziale del cromosoma 7p · Monosomia parziale del braccio corto del cromosoma 7 · Monosomia parziale del cromosoma 7p |
| nl | Partiële deletie van de korte arm van chromosoom 7-syndroom | Partiële deletie van chromosoom 7p · Partiële monosomie van chromosoom 7p · Partiële monosomie van de korte arm van chromosoom 7 |
| pt | Monossomia parcial do braço curto do cromossoma 7 | |
| pl | Zespół częściowej delecji krótkiego ramienia chromosomu 7 | Częściowa delecja chromosomu 7p · Cześciowa monosomia chromosomu 7p · Częściowa monosomia krótkiego ramienia chromosomu 7 |
| cs | Parciální delece krátkého raménka chromozomu 7 | Parciální delece chromozomu 7p · Parciální monozomie chromozomu 7p · Parciální monozomie krátkého raménka chromozomu 7 |
| uk | Часткова делеція короткого плеча хромосоми 7 | Часткова делеція хромосоми 7p · Часткова моносомія хромосоми 7p · Часткова моносомія короткого плеча хромосоми 7 |
| zh | 7号染色体短臂部分缺失 | 7号染色体短臂部分单体 |
| tr | 7. kromozomun kısa kolunun kısmi delesyonu | 7p kromozomunun kısmi delesyonu · 7p kromozomunun kısmi monozomisi · 7. kromozomun kısa kolunun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.71 | E | specific | validated |
| MONDO | 0016889 | E | validated | |
| MONDO | 16889 | E | validated | |
| UMLS | C5679668 | 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 (1):
- ORPHA:261796Partial deletion of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:96136OBSOLETE: Non-distal monosomy 7p 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261911
- This record as JSON: /data/d/261911.json