Shone complex
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adult, Childhood, Infancy, Neonatal
- Status
- active
Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Shone complex | |
| fr | Complexe de Shone | |
| de | Shone-Komplex | |
| es | Complejo de Shone | |
| it | Complesso di Shone | |
| nl | Shone-complex | |
| pt | Síndrome de Shone | |
| pl | Zespół Shone'a | |
| cs | Shoneův komplex | |
| uk | Комплекс Шона | |
| zh | Shone 综合征 | |
| tr | Shone sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.8 | NTBT | attributed | validated |
| ICD-11 | LA88.Y | NTBT | index | validated |
| MONDO | 0020404 | E | validated | |
| UMLS | C1868705 | E | validated | |
| MedDRA | 10066802 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95464Congenital mitral valve insufficiency and/or stenosis
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | DOI: 10.5530/jcdr.2016.3.8[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI: 10.5530/jcdr.2016.3.8[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99063
- This record as JSON: /data/d/99063.json