ORPHA:371212
Congenital disorder of glycosylation with deafness as a major feature
Synonyms: CDG with deafness as a major feature · CDG with hearing loss as a major feature · Congenital disorder of glycosylation with hearing loss 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital disorder of glycosylation with deafness as a major feature | CDG with deafness as a major feature · CDG with hearing loss as a major feature · Congenital disorder of glycosylation with hearing loss as a major feature |
| fr | Anomalie congénitale de la glycosylation avec surdité comme manifestation majeure | CDG avec surdité comme manifestation majeure |
| de | Kongenitale Glykosylierungsstörung mit Schwerhörigkeit als Hauptmerkmal | CDG mit Schwerhörigkeit als Hauptmerkmal |
| es | Trastorno congénito de la glicosilación con sordera como característica principal | CDG con hipoacusia como característica principal · CDG con sordera como característica principal · Trastorno congénito de la glicosilación con hipoacusia como característica principal |
| it | Disturbo congenito della glicosilazione con sordità come segno cardinale | CDG con sordità come segno cardinale |
| nl | Congenitale glycosylatiestoornis met doofheid als hoofdkenmerk | CDG met doofheid als hoofdkenmerk |
| pt | Doença congénita de glicosilação com surdez como característica principal | |
| pl | Wrodzone zaburzenie glikozylacji z głuchotą jako głównym objawem | CDG z głuchotą jako głównym objawem |
| cs | Vrozená porucha glykosylace s hluchotou jako hlavním příznakem | CDG s hluchotou jako hlavním příznakem |
| uk | Вроджене порушення глікозилювання з глухотою як основною ознакою | CDG з глухотою як головною особливістю · CDG з втратою слуху як основною особливістю · Вроджене порушення глікозилювання з втратою слуху як основною ознакою |
| zh | 以耳聋为主要特征的先天性糖基化障碍 | 以听力损失为主要特征的先天性糖基化障碍 |
| tr | Esas klinik özelliği sağırlık olan doğumsal glikozilasyon bozukluğu | Esas klinik özelliği sağırlık olan CDG · Esas klinik özelliği işitme kaybı olan CDG · Esas klinik özelliği işitme kaybı olan doğumsal glikozilasyon bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18295 | E | validated | |
| UMLS | C5680021 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
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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/371212
- This record as JSON: /data/d/371212.json