ORPHA:79224
Disorder of purine or pyrimidine 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 purine or pyrimidine metabolism | |
| fr | Trouble du métabolisme des purines ou pyrimidines | |
| de | Purin/Pyrimidin-Stoffwechselstörung | |
| es | Enfermedad del metabolismo de las purinas o pirimidinas | |
| it | Malattia del metabolismo della purina o pirimidina | |
| nl | Stoornis van purine- of pyrimidinemetabolisme | |
| pt | Doença do metabolismo das purinas ou pirimidinas | |
| pl | Zaburzenie metabolizmu puryn i pirymidyn | |
| cs | Porucha metabolismu purinů nebo pyrimidinů | |
| uk | Порушення пуринового або піримідинового обміну | |
| zh | 嘌呤或嘧啶代谢异常 | |
| tr | Pürin veya pirimidin metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019254 | E | validated | |
| MONDO | 19254 | E | validated | |
| MeSH | D011686 | E | validated | |
| UMLS | C0034139 | E | validated | |
| MedDRA | 10037546 | 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:68367Rare inborn error of metabolism
rare inborn errors of metabolism; rare genetic 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79224
- This record as JSON: /data/d/79224.json