ORPHA:309819
Disorder of pterin 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of pterin metabolism | |
| fr | Trouble du métabolisme des ptérines | |
| de | Pterin-Stoffwechselstörung | |
| es | Trastornos del metabolismo de la pterina | |
| it | Difetto del metabolismo della pterina | |
| nl | Stoornis van pterinemetabolisme | |
| pt | Alteração do metabolismo de pterina | |
| pl | Zaburzenia metabolizmu pteryny | |
| cs | Poruchy pterinového metabolismu | |
| uk | Порушення обміну птерину | |
| zh | 蝶呤代谢紊乱 | |
| tr | Pterin metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C59.01 | E | specific | validated |
| MONDO | 17756 | E | validated | |
| UMLS | C5681034 | 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:79169Disorder of neurotransmitter metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
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/309819
- This record as JSON: /data/d/309819.json