Nasal encephalocele
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Status
- active
Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nasal encephalocele | |
| fr | Encéphalocèle nasale | |
| de | Enzephalozele, frontonasale | |
| es | Encefalocele nasal | |
| it | Encefalocele nasale | |
| nl | Nasale encefalocele | |
| pt | Encefalocelo nasal | |
| pl | Przepuklina mózgowa nosowa | |
| cs | Nazální encefalokéla | |
| uk | Назальне енцефалоцеле | |
| zh | 鼻部脑膨出 | |
| tr | Nazal ensefalosel |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q01.1 | E | specific | validated |
| ICD-11 | LA01 | NTBT | index | validated |
| MONDO | 0015394 | E | validated | |
| UMLS | C0014066 | E | validated | |
| GARD | 19951 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:199647Isolated encephalocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141118
- This record as JSON: /data/d/141118.json