ORPHA:364526
Primary bone dysplasia
Synonyms: Primary osteodysplasia · Primary skeletal dysplasia
- 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 | Primary bone dysplasia | Primary osteodysplasia · Primary skeletal dysplasia |
| fr | Dysplasie osseuse primaire | Dysplasie squelettique primaire · Ostéodysplasie primaire |
| de | Knochendysplasie, primäre | Osteodysplasie, primäre · Primäre Skelettdysplasie |
| es | Displasia ósea primaria | Displasia esquelética primaria · Osteodisplasia primaria |
| it | Displasia ossea primitiva | Displasia scheletrica primitiva · Osteodisplasia primitiva |
| nl | Primaire botdysplasie | Primaire osteodysplasie · Primaire skeletdysplasie |
| pt | Displasia óssea primária | |
| pl | Pierwotna dysplazja kostna | Pierwotna dysplazja szkieletowa · Pierwotna osteodysplazja · Pierwotna osteodysplazja · Pierwotna dysplazja szkieletowa |
| cs | Primární kostní dysplázie | Primární osteodysplázie |
| uk | Первинна дисплазія кісток | Первинна остеодисплазія · Первинна скелетна дисплазія |
| zh | 原发性骨发育不良 | 原发性骨发育不良 |
| tr | Primer kemik displazisi | Primer osteodisplazi · Primer iskelet displazisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18230 | E | validated | |
| UMLS | C5679916 | 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:139012Rare bone development disorder
rare developmental anomalies during embryogenesis - ORPHA:93419Rare bone disease
rare bone diseases - ORPHA:404584Rare genetic bone development disorder
rare genetic diseases - ORPHA:183524Rare genetic bone disease
rare genetic diseases
Children (26):
- ORPHA:93436Acromelic dysplasia
- ORPHA:93437Acromesomelic dysplasia
- ORPHA:93439Campomelic dysplasia and related disorders
- ORPHA:93442Chondrodysplasia punctata
- ORPHA:93426Ciliopathies with major skeletal involvement
- ORPHA:93451Cleidocranial dysplasia and isolated cranial ossification defect
- ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
- ORPHA:93465Lethal chondrodysplasia
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
- ORPHA:93429Multiple epiphyseal dysplasia and pseudoachondroplasia
- ORPHA:93430Multiple metaphyseal dysplasia
- ORPHA:364541Otopalatodigital syndrome spectrum disorder
- ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
- ORPHA:93446Primary bone dysplasia with decreased bone density
- ORPHA:93447Primary bone dysplasia with defective bone mineralization
- ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
- ORPHA:93444Primary bone dysplasia with increased bone density
- ORPHA:364536Primary bone dysplasia with micromelia
- ORPHA:93441Primary bone dysplasia with multiple joint dislocations
- ORPHA:364531Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
- ORPHA:93449Primary osteolysis
- ORPHA:435804Short stature-advanced bone age-early-onset osteoarthritis syndrome
- ORPHA:93440Slender bone dysplasia
- ORPHA:93434Spondylodysplastic dysplasia
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- ORPHA:254Spondylometaphyseal dysplasia
Codes that Orphanet moved or referred to this one:
- ORPHA:1823OBSOLETE: Localized epiphyseal dysplasia referred to · inactive
- ORPHA:2458OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome referred to · inactive
- ORPHA:2507OBSOLETE: Mickleson syndrome referred to · inactive
- ORPHA:2864OBSOLETE: Short stature-prognathism-short femoral necks syndrome referred to · inactive
- ORPHA:99143OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364526
- This record as JSON: /data/d/364526.json