Retained medullary cord
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Status
- active
A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retained medullary cord | |
| fr | Moelle épinière terminale persistante (non regressée) | |
| de | Retained Medullary Cord | |
| es | Cordón medular retenido | |
| it | Corda midollare ritenuta | |
| nl | Persisterend terminaal ruggenmerg | |
| pt | Medula ancorada | |
| pl | Zakotwiczenie rdzenia kręgowego | |
| cs | Zachovaný míšní provazec | |
| uk | Збережений спинномозковий канатик |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q76.0 | NTBT | attributed | validated |
| MONDO | 0958348 | E | validated | |
| MONDO | 958348 | E | validated | |
| UMLS | C5816811 | 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 (2):
- ORPHA:645282Anomaly of the filum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:645193Dysraphism with stalk
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/645334
- This record as JSON: /data/d/645334.json