ORPHA:284993
Marfan syndrome and Marfan-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 | Marfan syndrome and Marfan-related disorders | |
| fr | Syndrome de Marfan et maladies associées | |
| de | Marfan and Marfan-verwandte Krankheiten | |
| es | Síndrome de Marfan y trastornos relacionados | |
| it | Sindrome di Marfan e malattie correlate | |
| nl | Syndroom van Marfan en Marfan-gerelateerde aandoeningen | |
| pt | Síndrome Marfan e doenças Marfan-relacionadas | |
| pl | Zespół Marfana i zaburzenia pokrewne | |
| cs | Marfanův syndrom a onemocnění příbuzná Marfanovu syndromu | |
| uk | Синдром Марфана та повязані з ним розлади | |
| zh | 马凡和马凡相关疾病 | |
| tr | Marfan ve Marfan-ilişkili bozukluklar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017310 | E | validated | |
| MONDO | 17310 | E | validated | |
| UMLS | C5681015 | 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 (2):
- ORPHA:619249Rare hereditary connective tissue disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
Children (10):
- ORPHA:284984Aneurysm-osteoarthritis syndrome
- ORPHA:115Congenital contractural arachnodactyly
- ORPHA:171719Cutis laxa-Marfanoid syndrome
- ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:1885Isolated ectopia lentis
- ORPHA:60030Loeys-Dietz syndrome
- ORPHA:558Marfan syndrome
- ORPHA:284979Neonatal Marfan syndrome
- ORPHA:2462Shprintzen-Goldberg syndrome
- ORPHA:622925X-linked severe syndromic thoracic aortic aneurysm and dissection
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/284993
- This record as JSON: /data/d/284993.json