ORPHA:93441
Primary bone dysplasia with multiple joint dislocations
Synonyms: Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations
- Type
- Clinical group
- 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 | Primary bone dysplasia with multiple joint dislocations | Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations |
| fr | Dysplasie osseuse primaire avec luxations articulaires multiples | Dysplasie squelettique primaire avec luxations articulaires multiples · Ostéodysplasie primaire avec luxations articulaires multiples |
| de | Primäre Knochendysplasie mit multiplen Gelenkdislokationen | Primäre Osteodysplasie mit multiplen Gelenkdislokationen · Primäre Skelettdysplasie mit multiplen Gelenkdislokationen |
| es | Displasia ósea primaria con luxaciones múltiples | Displasia esquelética primaria con luxaciones múltiples · Osteodisplasia primaria con luxaciones múltiples |
| it | Displasia ossea primitiva con dislocazioni articolari multiple | Displasia scheletrica primitiva con dislocazioni articolari multiple · Osteodisplasia primitiva con dislocazioni articolari multiple |
| nl | Primaire botdysplasie met multipele gewrichtsluxaties | Primaire osteodysplasie met meervoudige gewrichtsluxaties · Primaire skeletdysplasie met meervoudige gewrichtsluxaties |
| pt | Displasia dos ossos com múltiplas luxações articulares | |
| pl | Dysplazja kości z wielokrotnymi przemieszczeniami w stawach | = en |
| cs | Primární kostní dysplázie s mnohočetnými dislokacemi kloubů | Primární osteodysplázie s mnohočetnými dislokacemi kloubů · Primární skeletální dysplázie s mnohočetnými dislokacemi kloubů |
| uk | Первинна дисплазія кісток з множинними вивихами суглобів | Первинна остеодисплазія з множинними вивихами суглобів · Первинна скелетна дисплазія з множинними вивихами суглобів |
| zh | 原发性骨发育不良伴多关节脱位 | 原发性骨发育不良伴多关节脱位 |
| tr | Çoklu eklem çıkığı olan primer kemik displazisi | Çoklu eklem çıkığı ile seyreden primer osteodisplazi · Çoklu eklem çıkığı ile seyreden primer iskelet displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.E | E | specific | validated |
| UMLS | C5680275 | 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:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (19):
- ORPHA:1190Atelosteogenesis type I
- ORPHA:56305Atelosteogenesis type III
- ORPHA:114Auriculoosteodysplasia
- ORPHA:1263Boomerang dysplasia
- ORPHA:263463CHST3-related skeletal dysplasia
- ORPHA:280586Chondrodysplasia with joint dislocations, gPAPP type
- ORPHA:1508Coxoauricular syndrome
- ORPHA:1425Desbuquois syndrome
- ORPHA:642085EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
- ORPHA:503Larsen syndrome
- ORPHA:2370Larsen-like osseous dysplasia-short stature syndrome
- ORPHA:284139Larsen-like syndrome, B3GAT3 type
- ORPHA:2371Lethal Larsen-like syndrome
- ORPHA:85174Pseudodiastrophic dysplasia
- ORPHA:527450Severe myopia-generalized joint laxity-short stature syndrome
- ORPHA:589442Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
- ORPHA:642099Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
- ORPHA:93360Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
- ORPHA:438117Steel syndrome
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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/93441
- This record as JSON: /data/d/93441.json