ORPHA:268843
Malformation of the neurenteric canal, spinal cord and column
- 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 | Malformation of the neurenteric canal, spinal cord and column | |
| fr | Malformation du canal neurentérique et de la moelle épinière | |
| de | Fehlbildung von Canalis neurentericus, Rückenmark und Wirbelsäule | |
| es | Malformación del canal neuroentérico, la médula espinal y la columna | |
| it | Malformazione del canale neuroenterico, del midollo spinale e della colonna | |
| nl | Malformatie van neurenterisch kanaal, ruggenmerg en wervelkolom | |
| pt | Malformação do canal neuroentérico, medula espinhal e coluna | |
| pl | Malformacje kanału nerwowo-jelitowego, rdzenia kręgowego i kręgosłupa | |
| cs | Malformace neurenterického kanálu, míchy a míšního kanálu | |
| uk | Вади розвитку нервово-кишкового каналу, спинного мозку та хребта | |
| zh | 神经肠管、脊髓和脊柱畸形 | |
| tr | Nörenterik kanal, omurilik ve kolonun malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17085 | E | validated | |
| UMLS | C5680733 | 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
Children (14):
- ORPHA:268882Arnold-Chiari malformation type I
- ORPHA:3027Caudal regression syndrome
- ORPHA:268817Cephalocele
- ORPHA:63260Craniorachischisis
- ORPHA:63259Iniencephaly
- ORPHA:268868Isolated amyelia
- ORPHA:1048Isolated anencephaly/exencephaly
- ORPHA:2789Lateral meningocele syndrome
- ORPHA:268865Neurenteric cyst
- ORPHA:99856Primary syringomyelia
- ORPHA:268861Primary tethered cord syndrome
- ORPHA:397927Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
- ORPHA:656126Segmental spinal dysgenesis
- ORPHA:573278Split cord malformation
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/268843
- This record as JSON: /data/d/268843.json