Isolated filum lipoma
Synonyms: Lipoma of the filum terminale
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Status
- active
A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated filum lipoma | Lipoma of the filum terminale |
| fr | Lipome isolé du filum | Lipome du filum terminal |
| de | Isoliertes Filum-Lipom | Lipom des Filum terminale |
| es | Lipoma del filum aislado | Lipoma del filum terminal |
| it | Lipoma isolato del filum | Lipoma del filum terminale |
| nl | Geïsoleerd lipoom van filum | Lipoom van filum terminale |
| pt | Lipoma do filo medular isolado | Lipoma do filo terminal |
| pl | Izolowany tłuszczak nici końcowej | = en |
| cs | Izolovaný lipom filum terminale | = en |
| uk | Ізольована фіброзна ліпома | Ліпома кінцевого відділу нитки |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q76.0 | NTBT | attributed | validated |
| MONDO | 0958347 | E | validated | |
| MONDO | 958347 | E | validated | |
| UMLS | C5816720 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:645279Fibrolipomatous filum anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/645325
- This record as JSON: /data/d/645325.json