ORPHA:93454
Dysostosis with predominant vertebral and costal involvement
- 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 | Dysostosis with predominant vertebral and costal involvement | |
| fr | Dysostose vertébrale ou costale | |
| de | Dysostose mit vorwiegend vertebraler und kostaler Beteiligung | |
| es | Disostosis con afectación predominantemente vertebral y costal | |
| it | Disostosi con prevalente coinvolgimento costale e vertebrale | |
| nl | Dysostose met overheersende vertebrale en costale betrokkenheid | |
| pt | Disostose com envolvimento predominantemente vertebral e das costelas | |
| pl | Dyzostoza z dominującym udziałem kręgów i żeber | |
| cs | Dysostózy s predominantním postižením obratlů a žeber | |
| uk | Дизостоз з переважним ураженням хребців та ребер | |
| zh | 骨发育不全伴椎体和肋部受累 | |
| tr | Dominant vertebral ve kostal tutulum ile seyreden disostoz |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.H | E | specific | validated |
| UMLS | C5681591 | 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 (2):
- ORPHA:364559Dysostosis
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404568Dysostosis of genetic origin
rare genetic diseases
Children (20):
- ORPHA:2206Ankylosing vertebral hyperostosis with tylosis
- ORPHA:1797Autosomal dominant spondylocostal dysostosis
- ORPHA:2311Autosomal recessive spondylocostal dysostosis
- ORPHA:85164Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- ORPHA:1393Cerebrocostomandibular syndrome
- ORPHA:1394Cerebrofaciothoracic dysplasia
- ORPHA:1552Currarino syndrome
- ORPHA:720326Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome
- ORPHA:66637Diaphanospondylodysostosis
- ORPHA:2744Horizontal gaze palsy with progressive scoliosis
- ORPHA:2759Imperforate oropharynx-costovertebral anomalies syndrome
- ORPHA:2345Isolated Klippel-Feil syndrome
- ORPHA:447974Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
- ORPHA:2482Melhem-Fahl syndrome
- ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- ORPHA:453499Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:2840Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- ORPHA:2062Progressive non-infectious anterior vertebral fusion
- ORPHA:329191Tall stature-long halluces-multiple extra-epiphyses syndrome
- ORPHA:3456Wildervanck syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:94095OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome referred to · inactive
- ORPHA:329252OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93454
- This record as JSON: /data/d/93454.json