ORPHA:3388
Neural tube 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neural tube defect | |
| fr | Anomalie du tube neural | |
| de | Neuralrohrdefekt | |
| es | Anomalías del tubo neural | |
| it | Anomalie di chiusura del tubo neurale | |
| nl | Neuralebuisdefect | |
| pt | Defeito do tubo neural | |
| pl | Wada cewy nerwowej | |
| cs | Defekt neurální trubice | |
| uk | Дефект нервової трубки | |
| zh | 神经管缺损 | |
| tr | Nöral tüp defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018075 | E | validated | |
| MONDO | 18075 | E | validated | |
| MeSH | D009436 | E | validated | |
| UMLS | C0027794 | E | validated | |
| MedDRA | 10052046 | 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 (2):
- ORPHA:98044Central nervous system malformation
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183506Genetic central nervous system malformation
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
23 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 6-9 / 10 000 | 55 / 100 000 | United States | Value and class | Validated | Center for Diseases Control and Prevention 2004[OTHER]_26108864[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 91.05 / 100 000 | Europe | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 88.75 / 100 000 | Belgium | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 76.8 / 100 000 | Austria | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2009[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 74.7 / 100 000 | Czech Republic | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 2000-2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 47.9 / 100 000 | Croatia | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 109.6 / 100 000 | Denmark | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 86.7 / 100 000 | Finland | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1993-2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 120.2 / 100 000 | France | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | >1 / 1000 | 138.25 / 100 000 | Germany | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 67.2 / 100 000 | Hungary | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1998-2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 87.4 / 100 000 | Ireland | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 54.65 / 100 000 | Italy | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | >1 / 1000 | 109.5 / 100 000 | Malta | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 84.2 / 100 000 | Netherlands | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 92.7 / 100 000 | Norway | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1999-2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 92.5 / 100 000 | Poland | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1999-2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 47.3 / 100 000 | Portugal | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 98.5 / 100 000 | Spain | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 101.7 / 100 000 | Switzerland | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | >1 / 1000 | 115.5 / 100 000 | United Kingdom | Value and class | Validated | 26601850[PMID]_EUROCAT European surveillance of congenital anomalies 1991-2011[OTHER] |
| Prevalence at birth | >1 / 1000 | 1387 / 100 000 | China | Value and class | Validated | 16575897[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 31 / 100 000 | Brazil | Value and class | Validated | 23990401[PMID] |
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/3388
- This record as JSON: /data/d/3388.json