Myeloschisis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Status
- active
A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myeloschisis | |
| fr | Myéloschisis | |
| de | Myeloschisis | |
| es | Mielosquisis | |
| it | Mieloschisi | |
| nl | Myeloschisis | |
| pt | Mielosquise | |
| pl | Rozszczep rdzenia kręgowego | |
| cs | Myeloschíza | |
| uk | Мієлошизис |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.8 | NTBT | attributed | validated |
| ICD-11 | LA02.Y | NTBT | index | validated |
| MONDO | 0958076 | E | validated | |
| MONDO | 958076 | E | validated | |
| UMLS | C0266507 | 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:268369Open spinal dysraphism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
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/645398
- This record as JSON: /data/d/645398.json