ORPHA:102009
Classic lissencephaly
Synonyms: Lissencephaly type 1
- Type
- Clinical group
- Group
- Group of disorders
- 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 | Classic lissencephaly | Lissencephaly type 1 |
| fr | Lissencéphalie classique | Lissencéphalie type 1 |
| de | Lissenzephalie, klassische | |
| es | Lisencefalia clásica | Lisencefalia tipo 1 |
| it | Lissencefalia classica | Lissencefalia, tipo 1 |
| nl | Klassieke lissencefalie | Lissencefalie type 1 |
| pt | Lisencefalia clássica | |
| pl | Lizencefalia klasyczna | Lizencefalia typu 1 |
| cs | Klasická lisencefalie | Lisencefalie, typ 1 |
| uk | Класична лісенцефалія | Лісенцефалія типу 1 |
| zh | 经典无脑回畸形 | 无脑回畸形1型 |
| tr | Klasik lizensefali | Lizensefali tip 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0015146 | E | validated | |
| MONDO | 15146 | E | validated | |
| UMLS | C0431375 | E | validated | |
| GARD | 5049 | 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 (1):
- ORPHA:48471Lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Children (5):
- ORPHA:1084Isolated lissencephaly type 1 without known genetic defects
- ORPHA:95232Lissencephaly due to LIS1 mutation
- ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutation
- ORPHA:531Miller-Dieker syndrome
- ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
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/102009
- This record as JSON: /data/d/102009.json