ORPHA:268936
Isolated arhinencephaly
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated arhinencephaly | |
| fr | Arhinencéphalie isolée | |
| de | Arhinenzephalie, isolierte | |
| es | Arrinencefalia aislada | |
| it | Arinencefalia isolata | |
| nl | Geïsoleerde arhinencefalie | |
| pt | Arrinencefalia isolada | |
| pl | Izolowana arinencefalia | |
| cs | Izolovaná arinencefalie | |
| uk | Ізольована аріненцефалія | |
| zh | 无嗅脑畸形 | |
| tr | İzole arinensefali |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.1 | E | specific | validated |
| ICD-11 | LA05.4 | E | specific | validated |
| MONDO | 0968959 | E | validated | |
| MONDO | 968959 | E | validated | |
| UMLS | C4749732 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:199633Non-syndromic cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268936
- This record as JSON: /data/d/268936.json