ORPHA:104006
Congenital intestinal disease due to an enzymatic 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 | Congenital intestinal disease due to an enzymatic defect | |
| fr | Maladie intestinale congénitale due à une anomalie enzymatique | |
| de | Intestinale Krankheit durch enzymatischen Defekt, kongenitale | |
| es | Enfermedad intestinal congénita por un defecto enzimático | |
| it | Malattia intestinale da difetto enzimatico congenito | |
| nl | Congenitale darmziekte door een enzymatisch defect | |
| pt | Doença intestinal por deficiência enzimática, congénita | |
| pl | Wrodzona choroba jelit z powodu defektu enzymatycznego | |
| cs | Vrozená střevní choroba způsobená enzymatickým defektem | |
| uk | Вроджене захворювання кишечника через ферментативний дефект | |
| zh | 酶缺陷所致先天性肠病 | |
| tr | Enzimatik defekte bağlı doğumsal bağırsak hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15181 | E | validated | |
| UMLS | C5681744 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
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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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/104006
- This record as JSON: /data/d/104006.json