ORPHA:268363
Open iniencephaly
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Iniencephaly
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Open iniencephaly | |
| fr | Iniencéphalie ouverte | |
| de | Inienzephalie, offene | |
| es | Iniencefalia abierta | |
| it | Iniencefalia aperta | |
| nl | Open iniencefalie | |
| pt | Iniencefalia aberta | |
| pl | Iniencefalia otwarta | |
| cs | Otevřená iniencefalie | |
| uk | Відкрита ініенцефалія | |
| zh | 开放性枕骨裂露脑畸形 | |
| tr | Açık iniensefali |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q00.2 | NTBT | attributed | validated |
| ICD-11 | LA00.1 | NTBT | index | validated |
| MONDO | 0017060 | E | validated | |
| UMLS | C0431285 | 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:63259Iniencephaly
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
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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268363
- This record as JSON: /data/d/268363.json