ORPHA:645337
Terminal myelocystocele
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Status
- active
A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele).
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Terminal myelocystocele | |
| fr | Myélocystocèle terminale | |
| de | Myelozystozele, terminale | |
| es | Mielocistocele terminal | |
| it | Mielocistocele terminale | |
| nl | Terminale myelocystocele | |
| pt | Mielocistocelo terminal | |
| pl | Rozszczep terminalnego odcinka kręgosłupa z przepukliną rdzenia | |
| cs | Terminální myelocystokéla | |
| uk | Термінальне мієлоцистоцеле |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q05.9 | NTBT | attributed | validated |
| MONDO | 0970962 | E | validated | |
| MONDO | 970962 | E | validated | |
| UMLS | C5816718 | 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 (2):
- ORPHA:268813Myelocystocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:645319Saccular spinal dysraphism with a stalk to the dome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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/645337
- This record as JSON: /data/d/645337.json