ORPHA:98054
Rare genetic cardiac disease
- 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 genetic cardiac disease | |
| fr | Maladie cardiaque génétique rare | |
| de | Herzkrankheit, genetisch bedingte | |
| es | Enfermedades cardíacas genéticas raras | |
| it | Malattia cardiaca genetica rara | |
| nl | Zeldzame genetische hartziekte | |
| pt | Doença genética cardíaca | |
| pl | Rzadkie genetycznie uwarunkowane choroby serca | |
| cs | Vzácná geneticky podmíněná onemocnění srdce | |
| uk | Рідкісне генетично обумовлене захворювання серця | |
| zh | 罕见遗传性心脏病 | |
| tr | Nadir genetik kalp hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681503 | 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:98053Rare genetic disease
rare genetic diseases
Children (9):
- ORPHA:217607Familial dilated cardiomyopathy
- ORPHA:217635Familial restrictive cardiomyopathy
- ORPHA:477805Genetic cardiac malformation
- ORPHA:101934Genetic cardiac rhythm disease
- ORPHA:247Inherited arrhythmogenic cardiomyopathy
- ORPHA:363618LMNA-related cardiocutaneous progeria syndrome
- ORPHA:478049Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- ORPHA:99739Rare familial disorder with hypertrophic cardiomyopathy
- ORPHA:156532Rare syndrome with cardiac malformations
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/98054
- This record as JSON: /data/d/98054.json