ORPHA:101030
Subependymal nodular heterotopia
- 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 | Subependymal nodular heterotopia | |
| fr | Hétérotopie nodulaire sous-épendymaire | |
| de | Heterotopie, noduläre subependymale | |
| es | Heterotopia nodular subependimal | |
| it | Eterotopia nodulare sottoependimale | |
| nl | Subependymale nodulaire heterotopie | |
| pt | Heterotopia nodular subependimária | |
| pl | Podwyściółkowa heterotopia guzkowa | |
| cs | Subependymální nodulární heterotopie | |
| uk | Субепендимальна вузлова гетеротопія | |
| zh | 室管膜下结节性异位症 | |
| tr | Subepandimal nodüler heterotopi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LA05.5Y | NTBT | index | validated |
| MONDO | 0015094 | E | validated | |
| UMLS | C3160906 | E | validated | |
| GARD | 5050 | E | validated | |
| MedDRA | 10071150 | 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:2149Nodular neuronal heterotopia
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
23 annotations · validated 2020-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003330 | Abnormal bone structure | |
| HP:0430005 | Abnormality of ethmoid bone | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002349 | Focal aware seizure | |
| HP:0032046 | Focal cortical dysplasia | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0045084 | Limb myoclonus | |
| HP:0011818 | Nasofrontal encephalocele | |
| HP:0002085 | Occipital encephalocele | |
| HP:0002126 | Polymicrogyria | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000290 | Abnormality of the forehead | |
| HP:0031006 | Acroparesthesia | |
| HP:0011195 | EEG with focal sharp slow waves | |
| HP:0012013 | EEG with temporal focal spike waves | |
| HP:0025373 | Interictal EEG abnormality | |
| HP:0002435 | Meningocele | |
| HP:0002475 | Myelomeningocele | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0002057 | Prominent glabella | |
| HP:0002367 | Visual hallucinations | |
Annotation source: 21513859[PMID]_24148591[PMID]_17035053[PMID]_31559780[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101030
- This record as JSON: /data/d/101030.json