ORPHA:79171
Disorder of cobalamin metabolism and transport
- 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 cobalamin metabolism and transport | |
| fr | Anomalie de transport et du métabolisme de la cobalamine | |
| de | Cobalamin-Stoffwechsel- und Transport-Störung | |
| es | Trastornos del metabolismo y transporte de la cobalamina | |
| it | Difetto del metabolismo e del trasporto della cobalamina | |
| nl | Stoornis van cobalaminemetabolisme en -transport | |
| pt | Doença do metabolismo da cobalamina | |
| pl | Zaburzenie metabolizmu i transportu kobalaminy | |
| cs | Poruchy metabolismu a transportu kobalaminu | |
| uk | Порушення метаболізму та транспорту кобаламіну | |
| zh | 钴胺素代谢和转运异常 | |
| tr | Kobalamin metabolizması ve taşınmasında bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C63.0 | E | specific | validated |
| MONDO | 0019220 | E | validated | |
| MONDO | 19220 | E | validated | |
| UMLS | C5681844 | 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:309827Disorder of vitamin and non-protein cofactor absorption and transport
rare inborn errors of metabolism; rare genetic diseases
Children (8):
- ORPHA:332Congenital intrinsic factor deficiency
- ORPHA:2967Haptocorrin deficiency
- ORPHA:622Homocystinuria without methylmalonic aciduria
- ORPHA:35858Imerslund-Gräsbeck syndrome
- ORPHA:26Methylmalonic acidemia with homocystinuria
- ORPHA:280183Methylmalonic aciduria due to transcobalamin receptor defect
- ORPHA:859Transcobalamin II deficiency
- ORPHA:28Vitamin B12-responsive methylmalonic acidemia
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/79171
- This record as JSON: /data/d/79171.json