ORPHA:309839
Disorder of copper 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 copper metabolism | |
| fr | Trouble du métabolisme du cuivre | |
| de | Kupfer-Stoffwechselstörung | |
| es | Trastornos del metabolismo del cobre | |
| it | Difetto del metabolismo del rame | |
| nl | Stoornis van kopermetabolisme | |
| pt | Alteração do metabolismo do cobre | |
| pl | Zaburzenia metabolizmu miedzi | |
| cs | Poruchy metabolismu mědi | |
| uk | Порушення метаболізму міді | |
| zh | 铜代谢紊乱 | |
| tr | Bakır metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E83.0 | E | specific | validated |
| ICD-11 | 5C64.0 | E | specific | validated |
| MONDO | 0017762 | E | validated | |
| MONDO | 17762 | E | validated | |
| UMLS | C0012714 | E | validated | |
| MedDRA | 10061091 | 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:309836Disorder of mineral absorption and transport
rare inborn errors of metabolism; rare genetic diseases
Children (9):
- ORPHA:48818Aceruloplasminemia
- ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:300313Congenital cataract-hearing loss-severe developmental delay syndrome
- ORPHA:1551Familial benign copper deficiency
- ORPHA:171851MEDNIK syndrome
- ORPHA:565Menkes disease
- ORPHA:198Occipital horn syndrome
- ORPHA:905Wilson disease
- ORPHA:139557X-linked distal spinal muscular atrophy type 3
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/309839
- This record as JSON: /data/d/309839.json