ORPHA:404584
Rare genetic bone development disorder
Synonyms: Rare genetic skeletal development disorder
- 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 bone development disorder | Rare genetic skeletal development disorder |
| fr | Anomalie rare du développement osseux d'origine génétique | Anomalie rare du développement squelettique d'origine génétique |
| de | Seltene genetisch bedingte Störung der Knochenentwicklung | Seltene genetisch bedingte Störung der Skelettentwicklung |
| es | Trastorno raro genético del desarrollo óseo | Trastorno raro genético del desarrollo esquelético |
| it | Disturbo genetico raro dello sviluppo osseo | Disturbo genetico raro dello sviluppo scheletrico |
| nl | Zeldzame genetische botontwikkelingsstoornis | Zeldzame genetische skeletale ontwikkelingsstoornis |
| pt | Doença genética rara do desenvolvimento ósseo | |
| pl | Rzadkie genetyczne zaburzenia rozwoju kości | Rzadkie genetyczne zaburzenia rozwoju szkieletu |
| cs | Vzácné genetické poruchy kostního vývoje | Vzácné genetické poruchy kosterního vývoje |
| uk | Рідкісне генетично обумовлене порушення розвитку кісток | Рідкісне генетичне порушення розвитку скелета |
| zh | 罕见遗传性骨发育障碍 | 罕见的遗传性骨骼发育障碍 |
| tr | Nadir genetik kemik gelişimi bozukluğu | Nadir genetik iskelet gelişim bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18457 | E | validated | |
| UMLS | C5680015 | 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:183530Rare genetic developmental defect during embryogenesis
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/404584
- This record as JSON: /data/d/404584.json