ORPHA:314749
Rare disease with adrenal Cushing syndrome as a major feature
- 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 disease with adrenal Cushing syndrome as a major feature | |
| fr | Maladie rare avec un syndrome de Cushing surrénalien comme manifestation majeure | |
| de | Seltene Krankheit mit Cushing-Syndrom als Hauptmerkmal | |
| es | Enfermedad rara con síndrome de Cushing suprarrenal como característica principal | |
| it | Malattia rara con sindrome surrenalica di Cushing come segno principale | |
| nl | Zeldzame ziekte met adrenaal syndroom van Cushing als hoofdkenmerk | |
| pt | Doença rara com síndrome Cushing supra-renal como característica principal | |
| pl | Rzadka choroba z zespołem Cushinga jako objawem głównym | Rzadka choroba z zespołem Cushinga pochodzenia nadnerczowego jako główną cechą |
| cs | Vzácné nemoci s Cushingovým syndromem jako hlavním příznakem | |
| uk | Рідкісне захворювання з наднирковим синдромом Кушинга як основною ознакою | |
| zh | Cushing综合征为主要特征罕见病 | |
| tr | Esas klinik özelliği Cushing sendromu olan nadir hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17820 | E | validated | |
| UMLS | C5816688 | 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:647758Adrenal Cushing syndrome
rare endocrine diseases
Children (7):
- ORPHA:1501Adrenocortical carcinoma
- ORPHA:1359Carney complex
- ORPHA:524Li-Fraumeni syndrome
- ORPHA:562McCune-Albright syndrome
- ORPHA:652Multiple endocrine neoplasia type 1
- ORPHA:2976Pseudoleprechaunism syndrome, Patterson type
- ORPHA:647768Rare adrenocortical nodular disease with Cushing syndrome as a major feature
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/314749
- This record as JSON: /data/d/314749.json