ORPHA:309848
Disorder of magnesium 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 magnesium transport | |
| fr | Anomalie du transport du magnésium | |
| de | Magnesiumtransport-Störung | |
| es | Trastornos de transporte del magnesio | |
| it | Difetto del trasporto del magnesio | |
| nl | Stoornis van magnesiumtransport | |
| pt | Alteração do transporte de magnésio | |
| pl | Zaburzenia transportu magnezu | |
| cs | Poruchy transportu hořčíku | |
| uk | Порушення транспорту магнію | |
| zh | 镁转运障碍 | |
| tr | Magnezyum taşınım bozuklukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E83.4 | E | specific | validated |
| MONDO | 0017765 | E | validated | |
| MONDO | 17765 | E | validated | |
| UMLS | C5681030 | 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 (7):
- ORPHA:34528Autosomal dominant primary hypomagnesemia with hypocalciuria
- ORPHA:620368EGF-related primary hypomagnesemia with intellectual disability
- ORPHA:199326Isolated autosomal dominant hypomagnesemia, Glaudemans type
- ORPHA:306516Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- ORPHA:30924Primary hypomagnesemia with secondary hypocalcemia
- ORPHA:620363Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
- ORPHA:564178Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
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/309848
- This record as JSON: /data/d/309848.json