ORPHA:485631
Congenital bile acid synthesis defect
Synonyms: BASD
- Type
- Clinical group
- 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 | Congenital bile acid synthesis defect | BASD |
| fr | Déficit congénital de synthèse des acides biliaires | DSAB |
| de | Gallensäuresynthesedefekt, kongenitaler | = en |
| es | Defecto congénito de la síntesis de ácidos biliares | = en |
| it | Difetto congenito della sintesi degli acidi biliari | |
| nl | Congenitaal defect van galzuursynthese | = en |
| pt | Defeito congénito da síntese de ácidos biliares | = en |
| pl | Wrodzona wada syntezy kwasów żółciowych | = en |
| cs | Vrozený defekt syntézy žlučových kyselin | = en |
| uk | Вроджений дефект синтезу жовчних кислот | = en |
| zh | 先天性胆汁酸合成缺陷 | 胆汁酸合成缺陷 |
| tr | Doğumsal safra asidi sentez bozukluğu | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018841 | E | validated | |
| MONDO | 18841 | E | validated | |
| UMLS | C5680095 | 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:163631Bile acid synthesis defect with cholestasis and malabsorption
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
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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/485631
- This record as JSON: /data/d/485631.json