ORPHA:309830
Disorder of catecholamine synthesis
- 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 catecholamine synthesis | |
| fr | Anomalie de synthèse des catécholamines | |
| de | Katecholaminsynthesedefekt | |
| es | Trastornos de la síntesis de catecolaminas | |
| it | Difetto della sintesi delle catecolamine | |
| nl | Stoornis van catecholaminesynthese | |
| pt | Alteração da síntese de catecolaminas | |
| pl | Zaburzenia syntezy katecholamin | |
| cs | Poruchy syntézy katecholaminů | |
| uk | Порушення синтезу катехоламінів | |
| zh | 儿茶酚胺合成障碍 | |
| tr | Katekolamin sentezi bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C59.00 | E | specific | validated |
| MONDO | 0017759 | E | validated | |
| MONDO | 17759 | E | validated | |
| UMLS | C0342685 | 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:79169Disorder of neurotransmitter metabolism and transport
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/309830
- This record as JSON: /data/d/309830.json