Open spinal dysraphism
Synonyms: Open spina bifida · Spina bifida aperta
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Open spinal dysraphism | Open spina bifida · Spina bifida aperta |
| fr | Dysraphisme spinal ouvert | Spina bifida aperta · Spina bifida ouvert |
| de | Spinale Dysraphie, offene | Spina bifida aperta |
| es | Espina bífida abierta | |
| it | Spina bifida aperta | |
| nl | Spina bifida aperta | |
| pt | Espinha bífida aberta | |
| pl | Otwarty rozszczep kręgosłupa | = en |
| cs | Spina bifida aperta | = en |
| uk | Відкритий спінальний дизрафізм | Відкрита spina bifida · Spina bifida aperta |
| zh | 开放性脊柱裂 | |
| tr | Spina bifida aperta |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q05.0 | NTBT | attributed | validated |
| ICD-10 | Q05.1 | NTBT | attributed | validated |
| ICD-10 | Q05.2 | NTBT | attributed | validated |
| ICD-10 | Q05.3 | NTBT | attributed | validated |
| ICD-10 | Q05.4 | NTBT | attributed | validated |
| ICD-10 | Q05.5 | NTBT | attributed | validated |
| ICD-10 | Q05.6 | NTBT | attributed | validated |
| ICD-10 | Q05.7 | NTBT | attributed | validated |
| ICD-10 | Q05.8 | NTBT | attributed | validated |
| ICD-10 | Q05.9 | NTBT | attributed | validated |
| ICD-11 | LA02.1 | E | specific | validated |
| MONDO | 0017062 | E | validated | |
| MONDO | 17062 | E | validated | |
| UMLS | C0917813 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:268377OBSOLETE: Total spina bifida aperta referred to · inactive
- ORPHA:268384OBSOLETE: Thoracolumbosacral spina bifida aperta referred to · inactive
- ORPHA:268388OBSOLETE: Lumbosacral spina bifida aperta referred to · inactive
- ORPHA:268392OBSOLETE: Cervical spina bifida aperta referred to · inactive
- ORPHA:268397OBSOLETE: Cervicothoracic spina bifida aperta referred to · inactive
- ORPHA:268740OBSOLETE: Upper thoracic spina bifida aperta referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 51.5 / 100 000 | Germany | Value and class | Validated | 2785614[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 50 / 100 000 | France | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | >1 / 1000 | 400 / 100 000 | Ireland | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 6-9 / 10 000 | 62 / 100 000 | Latin America | Value and class | Validated | 3907353[PMID] |
| Point prevalence | >1 / 1000 | 400 / 100 000 | United Kingdom | Value and class | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268369
- This record as JSON: /data/d/268369.json