ORPHA:217595
Syndrome associated with hypertrophic cardiomyopathy
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome associated with hypertrophic cardiomyopathy | |
| fr | Syndrome associé à une cardiomyopathie hypertrophique | |
| de | Seltenes Syndrom mit assoziierter hypertropher Kardiomyopathie | |
| es | Síndrome asociado a una miocardiopatía hipertrófica | |
| it | Sindrome associata a cardiomiopatia ipertrofica | |
| nl | Syndroom geassocieerd met hypertrofische cardiomyopathie | |
| pt | Síndrome associado a miocardiopatia hipertrófica | |
| pl | Zespół z towarzyszącą kardiomiopatią przerostową | |
| cs | Syndrom asociovaný s hypertrofickou kardiomyopatií | |
| uk | Синдром, повязаний з гіпертрофічною кардіоміопатією | |
| zh | 肥厚型心肌病相关综合征 | |
| tr | Hipertrofik kardiyomiyopati -ilişkili sendrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680881 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:99739Rare familial disorder with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
Children (15):
- ORPHA:693647Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
- ORPHA:399058Alpha-B crystallin-related late-onset myopathy
- ORPHA:116Beckwith-Wiedemann syndrome
- ORPHA:1340Cardiofaciocutaneous syndrome
- ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndrome
- ORPHA:3071Costello syndrome
- ORPHA:98909Desminopathy
- ORPHA:95Friedreich ataxia
- ORPHA:726824Hepatorenocardiac degenerative fibrosis
- ORPHA:648Noonan syndrome
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:363972Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
- ORPHA:2701Noonan syndrome-like disorder with loose anagen hair
- ORPHA:228012Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
- ORPHA:273Steinert myotonic dystrophy
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/217595
- This record as JSON: /data/d/217595.json