ORPHA:309319
Disorder of sialic acid metabolism
- 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 | Disorder of sialic acid metabolism | |
| fr | Trouble du métabolisme de l'acide sialique | |
| de | Sialinsäure-Stoffwechselstörung | |
| es | Trastornos del metabolismo del ácido siálico | |
| it | Difetto del metabolismo dell'acido sialico | |
| nl | Stoornis van siaalzuurmetabolisme | |
| pt | Alteração do metabolismo do ácido siálico | |
| pl | Zaburzenia metabolizmu kwasu sialowego | |
| cs | Poruchy metabolismu sialové kyseliny | |
| uk | Порушення обміну сіалової кислоти | |
| zh | 唾液酸代谢紊乱 | |
| tr | Sialik asit metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C56.4 | E | specific | validated |
| MONDO | 0017736 | E | validated | |
| MONDO | 17736 | E | validated | |
| UMLS | C0342851 | 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 (1):
- ORPHA:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases
Children (1):
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309319
- This record as JSON: /data/d/309319.json