ORPHA:93450
Primary bone dysplasia with disorganized development of skeletal components
Synonyms: Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components
- 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 | Primary bone dysplasia with disorganized development of skeletal components | Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components |
| fr | Dysplasie osseuse primaire avec développement anarchique d'un élément du squelette | Dysplasie squelettique primaire avec développement anarchique d'un élément du squelette · Ostéodysplasie primaire avec développement anarchique d'un élément du squelette |
| de | Primäre Knochendysplasie mit desorganisierter Skelettentwicklung | Primäre Osteodysplasie mit desorganisierter Skelettentwicklung · Primäre Skelettdysplasie mit desorganisierter Skelettentwicklung |
| es | Displasia ósea primaria con desarrollo desorganizado de los componentes esqueléticos | Displasia esquelética primaria con desarrollo desorganizado de los componentes esqueléticos · Osteodisplasia primaria con desarrollo desorganizado de los componentes esqueléticos |
| it | Displasia ossea primitiva con sviluppo disorganizzato delle componenti scheletriche | Displasia scheletrica primitiva con sviluppo disorganizzato delle componenti scheletriche · Osteodisplasia primitiva con sviluppo disorganizzato delle componenti scheletriche |
| nl | Primaire botdysplasie met ongeorganiseerde ontwikkeling van skeletale componenten | Primaire osteodysplasie met ongeorganiseerde ontwikkeling van skeletale componenten · Primaire skeletale dysplasie met ongeorganiseerde ontwikkeling van skeletale componenten |
| pt | Displasia óssea primária com desenvolvimento desorganizado de compenentes esqueléticos | Desenvolvimento desorganizado de esqueleto |
| pl | Choroba kości z niescharmonizowanym rozwojem poszczególnych części szkieletu | = en |
| cs | Primární kostní dysplázie s disorganizovaným vývojem skeletálních komponent | Primární osteodysplázie s disorganizovanými vývojem skeletálních komponent · Primární skeletální dysplázie s disorganizovaným vývojem skeletálních komponent |
| uk | Первинна кісткова дисплазія з дезорганізованим розвитком компонентів скелета | Первинна остеодисплазія з дезорганізованим розвитком скелетних компонентів · Первинна скелетна дисплазія з дезорганізованим розвитком скелетних компонентів |
| zh | 原发性骨发育不良伴骨骼成分发育紊乱 | 原发性骨发育不良伴骨骼成分发育紊乱 |
| tr | İskelet bileşenlerinin düzensiz gelişimi ile seyreden primer kemik displazisi | İskelet bileşenlerinin düzensiz gelişimi ile seyreden primer osteodisplazi · İskelet bileşenlerinin düzensiz gelişimi ile seyreden primer iskelet displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680276 | 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 (25):
- ORPHA:2767Carpotarsal osteochondromatosis
- ORPHA:184Cherubism
- ORPHA:1822Dysplasia epiphysealis hemimelica
- ORPHA:85198Dysspondyloenchondromatosis
- ORPHA:1962Exostoses-anetodermia-brachydactyly type E syndrome
- ORPHA:337Fibrodysplasia ossificans progressiva
- ORPHA:595216Fibrous dysplasia/McCune-Albright syndrome
- ORPHA:85197Genochondromatosis type 1
- ORPHA:93398Genochondromatosis type 2
- ORPHA:53697Gnathodiaphyseal dysplasia
- ORPHA:73Gorham-Stout disease
- ORPHA:163634Maffucci syndrome
- ORPHA:57782Mazabraud syndrome
- ORPHA:2499Metachondromatosis
- ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:321Multiple osteochondromas
- ORPHA:2770Nasu-Hakola disease
- ORPHA:636Neurofibromatosis type 1
- ORPHA:296Ollier disease
- ORPHA:488265Osteofibrous dysplasia
- ORPHA:2645Osteoglosphonic dysplasia
- ORPHA:2762Progressive osseous heteroplasia
- ORPHA:3019Ramon syndrome
- ORPHA:2867Short stature, Brussels type
- ORPHA:3408Upington disease
Codes that Orphanet moved or referred to this one:
- ORPHA:1844OBSOLETE: Bone dysplasia, Azouz type 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/93450
- This record as JSON: /data/d/93450.json