ORPHA:88991
Rare congenital heart disease
Synonyms: CHD · Rare congenital non-syndromic heart malformation
- 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 | Rare congenital heart disease | CHD · Rare congenital non-syndromic heart malformation |
| fr | Maladie cardiaque congénitale rare | CHD · Malformation cardiaque congénitale non syndromique rare |
| de | Seltene kongenitale Herzerkrankheit | CHD · Seltene angeborene nicht-syndromale Herzfehlbildung |
| es | Enfermedad cardíaca congénita rara | Malformación cardíaca congénita no sindrómica rara |
| it | Malattia cardiaca congenita rara | CHD · Malformazione cardiaca congenita non sindromica rara |
| nl | Zeldzame congenitale hartziekte | CHD · Zeldzame congenitale niet-syndromale hartmalformatie · Zeldzame congenitale hartaandoening |
| pt | Malformação cardíaca não-sindromática congénita rara | |
| pl | Wrodzone wady serca | = en |
| cs | Vrozená malformace srdce | = en |
| uk | Рідкісна вроджена несиндромальна вада серця | |
| zh | 罕见先天性非综合征性心脏畸形 | |
| tr | Nadir Doğumsal sendromik olmayan kalp malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681450 | 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:97965Rare surgical cardiac disease
rare developmental anomalies during embryogenesis; rare cardiac malformations
Children (14):
- ORPHA:98720Atrioventricular valve anomaly
- ORPHA:1686Cardiac diverticulum
- ORPHA:99095Congenital Gerbode defect
- ORPHA:98724Congenital anomaly of the great arteries
- ORPHA:363189Congenital anomaly of the great veins
- ORPHA:1055Congenital left ventricular aneurysm
- ORPHA:2846Congenital pericardium anomaly
- ORPHA:1081Coronary artery congenital malformation
- ORPHA:1461Criss-cross heart
- ORPHA:98716Heart position anomaly
- ORPHA:98727Rare atrial defect and interatrial communication
- ORPHA:474347Rare congenital anomaly of ventricular septum
- ORPHA:98717Transposition of the great arteries and conotruncal cardiac anomaly
- ORPHA:95483Univentricular cardiopathy
Codes that Orphanet moved or referred to this one:
- ORPHA:2452OBSOLETE: Vascular malposition referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.8 / 100 000 | Europe | Value and class | Not yet validated | 21321151[PMID] |
| Prevalence at birth | >1 / 1000 | 223 / 100 000 | Canada | Value and class | Validated | 23812182[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
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/88991
- This record as JSON: /data/d/88991.json