ORPHA:645319
Saccular spinal dysraphism with a stalk to the dome
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Saccular spinal dysraphism with a stalk to the dome | |
| fr | Dysraphisme spinal sacculaire associé à un tractus | |
| de | Sakkuläre spinale Dysraphie mit einem Stiel zur Kuppel | |
| es | Disrafismo espinal sacular con pedículo a la cúpula | |
| it | Disrafismo spinale sacculare con un tralcio collegato ad una cupola epiteliale | |
| nl | Sacculaire spinale dysrafie met steel naar koepel | |
| pt | Disrafismo espinhal sacular com pedúnculo para a cúpula | |
| pl | Workowata wada dysraficzna rdzenia z szypułą przyczepioną do kopuły | |
| cs | Vakovitá dysrafie míchy se stopkou | |
| uk | Саккулярний спинальний дизрафізм зі стеблом до купола |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816721 | 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:645196Limited dorsal myeloschisis
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/645319
- This record as JSON: /data/d/645319.json