ORPHA:645193
Dysraphism with stalk
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysraphism with stalk | |
| fr | Dysraphisme à tractus | |
| de | Dysraphie mit Stiel | |
| es | Disrafismo con tallo | |
| it | Disrafismo associato ad un tratto | |
| nl | Dysrafie met steel | |
| pt | Disrafismo com pedúnculo | |
| pl | Wada dysraficzna z szypułą tkankową | |
| cs | Dysrafie se stopkou | |
| uk | Дизрафізм з ніжкою |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816733 | 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:645202Closed spinal dysraphism
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.
5
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/645193
- This record as JSON: /data/d/645193.json