ORPHA:645279
Fibrolipomatous filum anomaly
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted).
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibrolipomatous filum anomaly | |
| fr | Anomalie fibrolipomateuse du filum | |
| de | Fibrolipomatöse Anomalie des Filum terminale | |
| es | Anomalía del filum fibrolipomatoso | |
| it | Anomalia fibrolipomatosa del filum | |
| nl | Fibrolipomateuze anomalie van filum | |
| pt | Anomalia do filo medular fibrolipomatoso | |
| pl | Anomalia włókisto-tłuszczakowa nici końcowej | |
| cs | Fibrolipomatózní anomálie filum terminale | |
| uk | Фіброліпоматозна філаментна аномалія |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816812 | 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:645282Anomaly of the filum
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/645279
- This record as JSON: /data/d/645279.json