ORPHA:1931
Frontal encephalocele
Synonyms: Anterior encephalocele
- 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 | Frontal encephalocele | Anterior encephalocele |
| fr | Encéphalocèle frontale | Encéphalocèle antérieure |
| de | Enzephalozele, frontale | Enzephalozele, vordere |
| es | Encefalocele frontal | |
| it | Encefalocele frontale | Encefalocele anteriore |
| nl | Frontale encefalocele | Anterieure encefalocele |
| pt | Encefalocelo frontal | Encefalocelo anterior |
| pl | Przepuklina mózgowa czołowa | Przepuklina mózgowa przednia |
| cs | Frontální encefalokéla | Přední encefalokéla |
| uk | Енцефалоцеле лобної ділянки | Переднє енцефалоцеле |
| zh | 额部脑疝 | 前部脑疝 |
| tr | Frontal ensefalosel | anterior ensefalosel |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q01.0 | E | specific | validated |
| ICD-11 | LA01 | NTBT | index | validated |
| MONDO | 0016020 | E | validated | |
| UMLS | C0431289 | 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:199647Isolated encephalocele
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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002084 | Encephalocele | |
| HP:0000256 | Macrocephaly | |
| Frequent (79-30%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0002415 | Leukodystrophy | |
| HP:0001362 | Skull defect | |
| HP:0002414 | Spina bifida | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002514 | Cerebral calcification | |
| HP:0000268 | Dolichocephaly | |
| HP:0000316 | Hypertelorism | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1931
- This record as JSON: /data/d/1931.json