ORPHA:275749
Beta-thalassemia and related disorders
- 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 | Beta-thalassemia and related disorders | |
| fr | Bêta-thalassémie et maladies associées | |
| de | Beta-Thalassämie und verwandte Störungen | |
| es | Beta-talasemia y trastornos relacionados | |
| it | Beta talassemia e malattie correlate | |
| nl | Bèta-thalassemie en gerelateerde aandoeningen | |
| pt | Beta-talassemia e doenças relacionadas | |
| pl | Beta-talasemia i choroby powiązane | |
| cs | Beta talasémie a související nemoci | |
| uk | Бета-таласемія та повязані з нею захворювання | |
| zh | β地中海贫血及相关疾病 | |
| tr | Beta talasemi ve ilgili hastalıklar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D56.1 | BTNT | specific | validated |
| MONDO | 0017145 | E | validated | |
| MONDO | 17145 | E | validated | |
| UMLS | C5680748 | 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:707786Thalassemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
Children (6):
- ORPHA:848Beta-thalassemia
- ORPHA:231230Beta-thalassemia associated with another hemoglobin anomaly
- ORPHA:231237Delta-beta-thalassemia
- ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- ORPHA:231386Syndromic beta-thalassemia
- ORPHA:231226Unstable beta globin chain variant disease
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/275749
- This record as JSON: /data/d/275749.json