ORPHA:645270
Open spinal dysraphism with a posterior meningocele
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Open spinal dysraphism with a posterior meningocele | |
| fr | Dysraphisme spinal ouvert associé à une méningocèle | |
| de | Offene spinale Dysraphie mit hinterer Meningozele | |
| es | Disrafismo espinal abierto con meningocele posterior | |
| it | Disrafismo spinale aperto con meningocele posteriore | |
| nl | Open spinale dysrafie met posterieure meningocele | |
| pt | Disrafismo espinhal aberto com meningocelo posterior | |
| pl | Otwarta wada dysraficzna kręgosłupa z przepukliną oponową tylną | Otwarta wada dysraficzna kręgosłupa z przepukliną oponowo-rdzeniową tylną |
| cs | Otevřená spinální dysrafie se zadní meningokélou | |
| uk | Відкритий спінальний дизрафізм із заднім менінгоцеле |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816732 | 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:268369Open spinal dysraphism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:268744Spinal dysraphism with a posterior meningocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
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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/645270
- This record as JSON: /data/d/645270.json