ORPHA:231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Age of onset
- Infancy, Neonatal
- 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 11p15 translocation/inversion | |
| fr | Syndrome de Beckwith-Wiedemann dû à une translocation/inversion 11p15 | |
| de | Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion | |
| es | Síndrome de Beckwith-Wiedemann por translocación/inversión 11p15 | |
| it | Sindrome di Beckwith-Wiedemann da traslocazione/inversione 11p15 | |
| nl | Syndroom van Beckwith-Wiedemann door 11p15-translocatie/inversie | |
| pt | Síndrome de Beckwith-Wiedemann por translocação/inversão 11q15 | |
| pl | Zespół Beckwitha i Wiedemanna z powodu translokacji/inwersji 11p15 | |
| cs | Beckwithův-Wiedemannův syndrom způsobený translokací/inverzí 11p15 | Beckwith-Wiedemannův syndrom způsobený translokací/inverzí 11p15 |
| uk | Синдром Беквіта-Відемана, зумовлений транслокацією/інверсією 11p15 | |
| zh | 11p15易位/倒位所致Beckwith-Wiedemann综合征 | |
| tr | 11p15 translokasyon / inversiyona bağlı Beckwith-Wiedemann sendromu |
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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 | 0016478 | E | validated | |
| UMLS | C5680920 | 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:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231130
- This record as JSON: /data/d/231130.json