ORPHA:101071
Unilateral hemispheric polymicrogyria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unilateral hemispheric polymicrogyria | |
| fr | Polymicrogyrie unilatérale hémisphérique | |
| de | Polymikrogyrie, hemisphärische unilaterale | |
| es | Polimicrogiria unilateral hemisférica | |
| it | Polimicrogiria emisferica unilaterale | |
| nl | Unilaterale hemisferische polymicrogyrie | |
| pt | Polimicrogiria, unilateral, do lado direito | |
| pl | Jednostronna jednopółkulowa polimikrogyria | |
| cs | Unilaterální hemisférická polymikrogyrie | |
| uk | Однобічна півкульова полімікрогірія | |
| zh | 单侧半球多小脑回畸形 | |
| tr | Unilateral hemisferik polimikrogri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.50 | NTBT | index | validated |
| MONDO | 0015099 | E | validated | |
| UMLS | C5681804 | E | validated | |
| GARD | 19777 | 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:268943Unilateral polymicrogyria
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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
14 annotations · validated 2020-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006872 | Cerebral hypoplasia | |
| HP:0002539 | Cortical dysplasia | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0006891 | Thick cerebral cortex | |
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0012704 | Widened subarachnoid space | |
| Occasional (29-5%) | ||
| HP:0020220 | Focal atonic seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0012469 | Infantile spasms | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 11376999[PMID]_16401865[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101071
- This record as JSON: /data/d/101071.json