ORPHA:96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Synonyms: Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Status
- active
This disease is described under Beckwith-Wiedemann syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat |
| fr | Syndrome de Beckwith-Wiedemann dû à une disomie uniparentale d'origine paternelle du chromosome 11 | Disomie uniparentale mosaïque d'origine paternelle chromosome 11 · UPD(11) paternelle · UPD(11)pat |
| de | Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 | Paternale UPD(11) im Mosaik · UPD(11)pat |
| es | Síndrome de Beckwith-Wiedemann por disomía uniparental paterna del cromosoma 11 | Disomía uniparental paterna en mosaico del cromosoma 11 · UPD(11)pat |
| it | Sindrome di Beckwith-Wiedemann da disomia uniparentale paterna del cromosoma 11 | Disomia uniparentale paterna del cromosoma 11, tipo in mosaico · UPD(11)pat · UPDP 11 in mosaico |
| nl | Syndroom van Beckwith-Wiedemann door paternale uniparentale disomie van chromosoom 11 | Mozaïsche paternale uniparentale disomie van chromosoom 11 · UPD(11)pat |
| pt | Dissomia uniparental de origem paterna, cromossoma 11 | |
| pl | Zespół Beckwitha i Wiedemanna z powodu ojcowskiej jednorodzicielskiej disomii chromosomu 11 | Mozaikowa ojcowska jednorodzicielska disomia chromosomu 11 · UPD(11)pat |
| cs | Beckwithův-Wiedemannův syndrom z důvodu paternální uniparentální dizomie chromozomu 11 | Mozaiková paternální uniparentální dizomie chromozomu 11 · UPD(11)pat · Beckwith-Wiedemannův syndrom z důvodu paternální uniparentální dizomie chromozomu 11 |
| uk | Синдром Беквіта-Відемана, зумовлений батьковою уніпарентною дисомією хромосоми 11 з боку батька | Мозаїчна однобатьківська дисомія по 11-й хромосомі по лінії батька · UPD(11)pat |
| zh | 11号染色体父系单亲二体所致贝克威思-威德曼综合征 | 嵌合型父源性11号染色体单亲二倍体 |
| tr | 11. kromozomun paternal uniparental dizomisine bağlı Beckwith-Wiedemann sendromu | UPD (11) pat · 11. kromozomun mozaik paternal uniparental dizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0019923 | E | validated | |
| UMLS | C5680249 | 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 (2):
- ORPHA:116Beckwith-Wiedemann syndrome
rare cardiac diseases; rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare otorhinolaryngological diseases; rare neoplastic diseases; rare surgical maxillo-facial diseases; rare transplant-related disorders - ORPHA:98154Paternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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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/96193
- This record as JSON: /data/d/96193.json