ORPHA:645282
Anomaly of the filum
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord).
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anomaly of the filum | |
| fr | Anomalie du filum | |
| de | Anomalie des Filum | |
| es | Anomalía del filum | |
| it | Anomalia del filum | |
| nl | Anomalie van filum | |
| pt | Anomalia do filo medular | |
| pl | Anomalia nici końcowej | |
| cs | Anomálie filu | |
| uk | Аномалія філума |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816730 | 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:268357Neural tube closure defect
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/645282
- This record as JSON: /data/d/645282.json