ORPHA:101029
Sub-cortical 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 | Sub-cortical nodular heterotopia | |
| fr | Hétérotopie nodulaire sous-corticale | |
| de | Heterotopie, noduläre subkortikale | |
| es | Heterotopia nodular sub-cortical | |
| it | Eterotopia nodulare sottocorticale | |
| nl | Subcorticale nodulaire heterotopie | |
| pt | Heterotopia nodular, sub-cortical | |
| pl | Podkorowa heterotopia guzkowa | |
| cs | Subkortikální nodulární heterotopie | |
| uk | Підкіркова вузловата гетеротопія | |
| zh | 皮质下结节性异位症 | |
| tr | Subkortikal 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 | 0015093 | E | validated | |
| UMLS | C5681805 | E | validated | |
| GARD | 19775 | 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
15 annotations · validated 2020-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0001250 | Seizure | |
| HP:0032391 | Subcortical heterotopia | |
| Frequent (79-30%) | ||
| HP:0002699 | Abnormality of the foramen magnum | |
| HP:0010843 | EEG with focal slow activity | |
| HP:0011193 | EEG with focal spikes | |
| HP:0001347 | Hyperreflexia | |
| HP:0001324 | Muscle weakness | |
| HP:0002126 | Polymicrogyria | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 10696010[PMID]_25091978[PMID]_31490406[PMID]_6499568[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101029
- This record as JSON: /data/d/101029.json