Myelocystocele
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non terminal myelocystocele).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myelocystocele | |
| fr | Myélocystocèle | |
| de | Myelozystozele | |
| es | Mielocistocele | |
| it | Mielocistocele | |
| nl | Myelocystocele | |
| pt | Mielocistocelo | |
| pl | Mielocystocele | |
| cs | Myelocystokéla | |
| uk | Мієлоцистоцеле | |
| zh | 脊髓囊状突出 | |
| tr | Miyelosistosel |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q05.9 | NTBT | index | validated |
| ICD-11 | LA02.02 | E | specific | validated |
| MONDO | 0017077 | E | validated | |
| MONDO | 17077 | E | validated | |
| UMLS | C4551677 | 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:645202Closed spinal dysraphism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:268744Spinal dysraphism with a posterior meningocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268813
- This record as JSON: /data/d/268813.json