ORPHA:79022
Simpson-Golabi-Behmel syndrome type 2
inactive · moved to ORPHA:300496Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Synonyms: Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multiple congenital anomalies-hypotonia-seizures syndrome type 2
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Simpson-Golabi-Behmel syndrome type 2 | Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2 |
| fr | Syndrome de Simpson-Golabi-Behmel type 2 | SGBS2 · Syndrome de Simpson-Golabi-Behmel létal |
| de | Simpson-Golabi-Behmel-Syndrom Typ 2 | SGBS2 · Simpson-Golabi-Behmel-Syndrom, letale Form |
| es | Síndrome de Simpson-Golabi-Behmel tipo 2 | |
| it | Sindrome di Simpson-Golabi-Behmel, tipo 2 | Sindrome di Simpson-Golabi-Behmel, forma letale |
| nl | Simpson-Golabi-Behmelsyndroom type 2 | Letale variant van Simpson-Golabi-Behmelsyndroom · SGBS2 |
| pt | Síndrome de Simpson-Golabi-Behmel tipo 2 | SGBS2 · Síndrome de Simpson-Golabi-Behmel, forma letal |
| pl | Zespół Simpsona, Golabi i Behmela typu 2 | SGBS2 · Śmiertelny wariant zespołu Simpsona, Golabi i Behmela |
| cs | Simpsonův-Golabiho-Behmelův syndrom, typ 2 | Letální varianta Simpsonova-Golabiho-Behmelova syndromu · SGBS2 · Simpson-Golabi-Behmelův syndrom, typ 2 · Letální varianta Simpson-Golabi-Behmelova syndromu |
| uk | Синдром Сімпсона-Голабі-Бехмеля, тип 2 | Летальний варіант синдрому Сімпсона-Голабі-Бехмеля · SGBS2 |
| zh | Simpson-Golabi-Behmel综合征2型 | 致死变异型Simpson-Golabi-Behmel综合征 |
| tr | Simpson-Golabi-Behmel sendromu tip 2 | SGBS2 · Simpson-Golabi-Behmel sendromunun letal varyantı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1846175 | 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
Not placed in any Orphanet classification in this release.
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/79022
- This record as JSON: /data/d/79022.json