ORPHA:308448
Aminoacylase deficiency
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aminoacylase deficiency | |
| fr | Déficit en aminoacylase | |
| de | Aminoacylase-Mangel | |
| es | Deficiencia de aminoacilasa | |
| it | Deficit di aminoacilasi | |
| nl | Aminoacylasedeficiëntie | |
| pt | Défice de aminoacilase | |
| pl | Niedobór aminoacylazy | |
| cs | Deficit aminoacylázy | |
| uk | Дефіцит аміноацилази | |
| zh | 氨基酰化酶缺乏症 | |
| tr | Aminoasilaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017686 | E | validated | |
| MONDO | 17686 | E | validated | |
| UMLS | C5681074 | 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:79158Cerebral organic aciduria
rare inborn errors of metabolism; rare genetic diseases
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/308448
- This record as JSON: /data/d/308448.json