ORPHA:93459
Syndrome with synostosis or other joint formation defect
- 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 | Syndrome with synostosis or other joint formation defect | |
| fr | Syndrome avec synostose ou autre anomalie du développement des articulations | |
| de | Syndrome mit Synostose oder anderer Gelenkfehlentwicklung | |
| es | Síndrome con sinostosis y otros defectos en la formación de las articulaciones | |
| it | Sindrome con sinostosi o altra anomalia dello sviluppo degli arti | |
| nl | Syndroom met synostose of ander gewrichtsvormingsdefect | |
| pt | Sinostose ou outro defeito de formação articular | |
| pl | Kościozrost lub inne zaburzenia połączeń stawowych | |
| cs | Syndromy se synostózou nebo jiným defektem formace kloubů | |
| uk | Синдром із синостозом або іншим дефектом формування суглоба | |
| zh | 伴关节早闭或其他关节形成缺陷的综合征 | |
| tr | Sinostozlu sendrom veya diğer eklem oluşum bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681596 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
Children (12):
- ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1228Banki syndrome
- ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
- ORPHA:2900Leri pleonosteosis
- ORPHA:3237Multiple synostoses syndrome
- ORPHA:2760OSLAM syndrome
- ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- ORPHA:3270Radioulnar synostosis-developmental delay-hypotonia syndrome
- ORPHA:3268Radioulnar synostosis-microcephaly-scoliosis syndrome
- ORPHA:3246Symphalangism with multiple anomalies of hands and feet
- ORPHA:1412Tarsal-carpal coalition syndrome
- ORPHA:3466WT limb-blood syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:1256OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome referred to · inactive
- ORPHA:294961OBSOLETE: Syndromes with synostoses of limbs referred to · inactive
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/93459
- This record as JSON: /data/d/93459.json