ORPHA:477811
Rare hypercholesterolemia
- 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 | Rare hypercholesterolemia | |
| fr | Hypercholestérolémie rare | |
| de | Seltene Hypercholesterinämie | |
| es | Hipercolesterolemia rara | |
| it | Ipercolesterolemia rara | |
| nl | Zeldzame hypercholesterolemie | |
| pt | Hipercolesterolemia rara | |
| pl | Rzadka hipercholesterolemia | |
| cs | Vzácná hypercholesterolémie | |
| uk | Рідкісна гіперхолестеринемія | |
| zh | 罕见高胆固醇血症 | |
| tr | Nadir hiperkolesterolemi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18799 | E | validated | |
| UMLS | C5681254 | 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:181422Rare hyperlipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
Children (6):
- ORPHA:468684CCDC115-CDG
- ORPHA:618891Chronic neurovisceral acid sphingomyelinase deficiency
- ORPHA:77293Chronic visceral acid sphingomyelinase deficiency
- ORPHA:391665Homozygous familial hypercholesterolemia
- ORPHA:209902Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- ORPHA:466703TMEM199-CDG
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/477811
- This record as JSON: /data/d/477811.json