ORPHA:139012
Rare bone development disorder
Synonyms: Rare 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare bone development disorder | Rare skeletal development disorder |
| fr | Anomalie rare du développement osseux | Anomalie rare du développement squelettique |
| de | Seltene Entwicklungsstörung des Knochen | Seltene Entwicklungsstörung des Skeletts |
| es | Trastorno raro del desarrollo óseo | Trastorno raro del desarrollo esquelético |
| it | Difetto raro dello sviluppo osseo | Difetto raro dello sviluppo scheletrico |
| nl | Zeldzame botontwikkelingsstoornis | Zeldzame skeletale ontwikkelingsstoornis |
| pt | Síndrome dismórfico com envolvimento ósseo | |
| pl | Zespół malformacyjny dotyczący kości | = en |
| cs | Vzácné poruchy kostního vývoje | Vzácné poruchy skeletálního vývoje |
| uk | Рідкісне порушення розвитку кісток | Рідкісне порушення розвитку скелета |
| zh | 罕见骨发育障碍 | 罕见骨骼发育障碍 |
| tr | Nadir kemik gelişim bozukluğu | Nadir iskelet gelişim bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15328 | E | validated | |
| UMLS | C5679598 | E | validated | |
| GARD | 19901 | 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 (1):
- ORPHA:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis
Codes that Orphanet moved or referred to this one:
- ORPHA:139015OBSOLETE: Chondrodysplastic malformation syndrome referred to · inactive
- ORPHA:139018OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones referred to · inactive
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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/139012
- This record as JSON: /data/d/139012.json