ORPHA:79163
Classic organic aciduria
- 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 | Classic organic aciduria | |
| fr | Acidurie organique classique | |
| de | Organoazidopathie, klassische | |
| es | Aciduria orgánica clásica | |
| it | Aciduria organica classica | |
| nl | Klassieke organische acidurie | |
| pt | Acidúria orgânica clássica | |
| pl | Klasyczna acyduria organiczna | |
| cs | Klasická organická acidurie | |
| uk | Класична органічна ацидурія | |
| zh | 典型有机酸尿症 | |
| tr | Klasik organik asidüri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C50.E0 | E | specific | validated |
| MONDO | 0019215 | E | validated | |
| MONDO | 19215 | E | validated | |
| UMLS | C5681291 | 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:289899Organic aciduria
rare inborn errors of metabolism; rare genetic diseases
Children (15):
- ORPHA:791572-methylbutyryl-CoA dehydrogenase deficiency
- ORPHA:203-hydroxy-3-methylglutaric aciduria
- ORPHA:9393-hydroxyisobutyric aciduria
- ORPHA:63-methylcrotonyl-CoA carboxylase deficiency
- ORPHA:2899023-methylglutaconic aciduria
- ORPHA:134Beta-ketothiolase deficiency
- ORPHA:699835Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
- ORPHA:289504Combined malonic and methylmalonic acidemia
- ORPHA:79159Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:33Isovaleric acidemia
- ORPHA:26Methylmalonic acidemia with homocystinuria
- ORPHA:293355Methylmalonic acidemia without homocystinuria
- ORPHA:148Multiple carboxylase deficiency
- ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- ORPHA:35Propionic 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79163
- This record as JSON: /data/d/79163.json