Mega-cisterna magna
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mega-cisterna magna | |
| fr | Méga-cisterna magna | Poche arachnoïdienne de la cisterna magna |
| de | Megacisterna magna | |
| es | Megacisterna magna | |
| it | Mega cisterna magna | |
| nl | Mega-cisterna magna | |
| pt | Megacisterna magna | |
| pl | Mega-cisterna magna | |
| cs | Mega cisterna magna | |
| uk | Mega-cisterna magna | |
| zh | 巨大枕大池 | |
| tr | Mega-sisterna magna |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| MONDO | 0019953 | E | validated | |
| UMLS | C3164501 | 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:729563Isolated posterior fossa cystic malformation
rare developmental anomalies during embryogenesis; 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/97252
- This record as JSON: /data/d/97252.json