ORPHA:48471
Lissencephaly
- Type
- Category
- Group
- Group of disorders
- Age of onset
- Infancy, Neonatal
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly | |
| fr | Lissencéphalie | |
| de | Lissenzephalie | |
| es | Lisencefalia | |
| it | Lissencefalia | |
| nl | Lissencefalie | |
| pt | Lisencefalia | |
| pl | Lizencefalia | |
| cs | Lissencefalie | |
| uk | Лісенцефалія | |
| zh | 无脑回畸形 | |
| tr | Lizensefali |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018838 | E | validated | |
| MONDO | 18838 | E | validated | |
| MeSH | D054082 | E | validated | |
| UMLS | C0266463 | E | validated | |
| GARD | 12291 | E | validated | |
| MedDRA | 10048911 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:729560Forebrain malformation
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (7):
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48471
- This record as JSON: /data/d/48471.json