ORPHA:108969
Syndromic intestinal malformation
- 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 | Syndromic intestinal malformation | |
| fr | Malformation intestinale syndromique | |
| de | Intestinale Fehlbildungen, syndromale | |
| es | Malformación intestinal sindrómica | |
| it | Malformazione intestinale sindromica | |
| nl | Syndromale intestinale malformatie | |
| pt | Malformação intestinal sindrómica | |
| pl | Syndromiczna malformacja jelit | |
| cs | Syndromické intestinální malformace | |
| uk | Синдромальна кишкова вада розвитку | |
| zh | 综合征性肠畸形 | |
| tr | Sendromik bağırsak malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15212 | E | validated | |
| UMLS | C5681760 | E | validated | |
| GARD | 19860 | 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:97945Intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
Children (8):
- ORPHA:436252Combined immunodeficiency-multiple intestinal atresia
- ORPHA:527468Diaphragmatic hernia-short bowel-asplenia syndrome
- ORPHA:293864Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
- ORPHA:2464Marfanoid syndrome, De Silva type
- ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
- ORPHA:506307Stromme syndrome
- ORPHA:1759Thoraco-abdominal enteric duplication
- ORPHA:3405Umbilical cord ulceration-intestinal atresia syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/108969
- This record as JSON: /data/d/108969.json