ORPHA:93434
Spondylodysplastic dysplasia
- 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 | Spondylodysplastic dysplasia | |
| fr | Dysplasie spondylo-dysplasique | |
| de | Dysplasie, spondylodysplastische | |
| es | Displasia espondilodisplásica | |
| it | Displasia spondilodisplastica | |
| nl | Spondylodysplastische dysplasie | |
| pt | Displasia espondilodisplásica | |
| pl | Ciężka dysplazja kręgosłupowo-dysplastyczna | |
| cs | Spondylodysplastické dysplázie | |
| uk | Спондилодиспластична дисплазія | |
| zh | 脊柱干骺发育不良症 | |
| tr | Spondilodisplastik displazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.5 | E | specific | validated |
| MONDO | 0019694 | E | validated | |
| UMLS | C4736216 | 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 (13):
- ORPHA:932Achondrogenesis
- ORPHA:401979Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
- ORPHA:1293Brachyolmia
- ORPHA:66637Diaphanospondylodysostosis
- ORPHA:2746Opsismodysplasia
- ORPHA:85166Platyspondylic dysplasia, Torrance type
- ORPHA:622934SBDS-related severe neonatal spondylometaphyseal dysplasia
- ORPHA:3144Schneckenbecken dysplasia
- ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- ORPHA:3180Spondylocamptodactyly syndrome
- ORPHA:3275Spondylocarpotarsal synostosis
- ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type
- ORPHA:1436X-linked skeletal dysplasia-intellectual disability syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:1417OBSOLETE: Platyspondylic lethal chondrodysplasia referred to · inactive
- ORPHA:93435OBSOLETE: Moderate spondylodysplastic dysplasia 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/93434
- This record as JSON: /data/d/93434.json