ORPHA:268357
Neural tube closure defect
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neural tube closure defect | |
| fr | Défaut de fermeture du tube neural | |
| de | Verschlussdefekt des Neuralrohrs | |
| es | Defectos del cierre del tubo neural | |
| it | Difetto di chiusura del tubo neurale | |
| nl | Sluitingsdefect van neurale buis | |
| pt | Defeito do encerramento do tubo neural | |
| pl | Defekt zamknięcia cewy nerwowej | |
| cs | Porucha uzávěru neurální trubice | |
| uk | Дефект закриття нервової трубки | |
| zh | 神经管闭合缺陷 | |
| tr | Nöral tüp kapanma defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182940 | BTNT | validated | |
| OMIM | 301410 | BTNT | validated | |
| OMIM | 601634 | BTNT | validated | |
| MONDO | 17059 | E | validated | |
| UMLS | C5680742 | 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:3388Neural tube defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
4
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.
6
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/268357
- This record as JSON: /data/d/268357.json