Isolated transitional filum lipoma
- 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, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated transitional filum lipoma | |
| fr | Lipome transitionnel isolé du filum | |
| de | Isoliertes Lipom des Filum transitionale | |
| es | Lipoma del filum transicional aislado | |
| it | Lipoma transizionale isolato del filum | |
| nl | Geïsoleerd transitioneel lipoom van filum | |
| pt | Lipoma de transição do filo medular isolado | |
| pl | Izolowany przejściowy tłuszczak nici końcowej | |
| cs | Izolovaný přechodný lipom filum terminale | |
| uk | Ізольована перехідна фіброзна ліпома |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.8 | NTBT | attributed | validated |
| MONDO | 0958346 | E | validated | |
| MONDO | 958346 | E | validated | |
| UMLS | C5816722 | 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/645322
- This record as JSON: /data/d/645322.json