ORPHA:371183
Congenital disorder of glycosylation with cardiac malformation as a major feature
Synonyms: CDG with cardiac malformation as a major feature
- 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 | Congenital disorder of glycosylation with cardiac malformation as a major feature | CDG with cardiac malformation as a major feature |
| fr | Anomalie congénitale de la glycosylation avec une malformation cardiaque comme manifestation majeure | CDG avec une malformation cardiaque comme manifestation majeure |
| de | Kongenitale Glykosylierungsstörung mit Fehlbildung des Herzens als Hauptmerkmal | CDG mit Herzfehlbildung als Hauptmerkmal |
| es | Trastorno congénito de la glicosilación con malformación cardíaca como característica principal | CDG con malformación cardíaca como característica principal |
| it | Disturbo congenito della glicosilazione con malformazione cardiaca come segno cardinale | CDG con malformazione cardiaca come segno cardinale |
| nl | Congenitale glycosylatiestoornis met hartafwijking als hoofdkenmerk | CDG met hartafwijking als hoofdkenmerk |
| pt | Doença congénita de glicosilação com malformação cardíaca como característica principal | |
| pl | Wrodzone zaburzenie glikozylacji z wadą serca jako objawem głównym | CDG z wadą serca jako objawem głównym |
| cs | Vrozená porucha glykosylace se srdeční malformací jako hlavním příznakem | CDG se srdeční malformací jako hlavním příznakem |
| uk | Вроджене порушення глікозилювання з серцевою вадою як основною ознакою | CDG з серцевими вадами як основною ознакою |
| zh | 以心脏畸形为主要特征的先天性糖基化障碍 | 以心脏畸形为主要特征的CDG |
| tr | Esas klinik özelliği kardiyak malformasyon olan doğumsal glikozilasyon bozukluğu | Esas klinik özelliği kardiyak malformasyon olan CDG |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18290 | E | validated | |
| UMLS | C5679906 | 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 (2):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/371183
- This record as JSON: /data/d/371183.json