ORPHA:268744
Spinal dysraphism with a posterior meningocele
Synonyms: Spina bifida cystica
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare spinal dysraphism characterized by the presence of a posteriorly located sac containing cerebrospinal fluid.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal dysraphism with a posterior meningocele | Spina bifida cystica |
| fr | Dysraphisme spinal associé à une méningocèle postérieure | Spina bifida cystica · Spina bifida kystique |
| de | Spinale Dysraphie mit posteriorer Meningozele | = en |
| es | Espina bífida quística | |
| it | Spina bifida cistica | |
| nl | Spina bifida cystica | |
| pt | Espinha bífida quística | |
| pl | Rozszczep kręgosłupa torbielowaty | = en |
| cs | Spina bifida cystica | = en |
| uk | Спинальний дизрафізм із заднім менінгоцеле | = en |
| zh | 囊性脊柱裂 | |
| tr | Spina bifida sistika |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LA02.0 | E | specific | validated |
| MONDO | 0017069 | E | validated | |
| MONDO | 17069 | E | validated | |
| MeSH | D016137 | E | validated | |
| UMLS | C0037917 | E | validated | |
| MedDRA | 10071011 | 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:823Spina bifida and other spinal dysraphisms
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:268748OBSOLETE: Total spina bifida cystica referred to · inactive
- ORPHA:268752OBSOLETE: Thoracolumbosacral spina bifida cystica referred to · inactive
- ORPHA:268758OBSOLETE: Lumbosacral spina bifida cystica referred to · inactive
- ORPHA:268762OBSOLETE: Cervical spina bifida cystica referred to · inactive
- ORPHA:268766OBSOLETE: Cervicothoracic spina bifida cystica referred to · inactive
- ORPHA:268770OBSOLETE: Upper thoracic spina bifida cystica referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 33 / 100 000 | Saudi Arabia | Value and class | Validated | 17587020[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/268744
- This record as JSON: /data/d/268744.json