spondyloepiphyseal dysplasia with atlantoaxial instability

Preferred Label : spondyloepiphyseal dysplasia with atlantoaxial instability;

Définition CISMeF : Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.;

Détails

Origin ID

C563472;

UMLS CUI

C1833603;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia Reardon type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia with atlantoaxial instability [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Reardon type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Reardon type [ORDO Disease]
MeSH term(s) associated for indexing
- atlanto-axial joint [MeSH Descriptor]
- joint instability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondyloepiphyseal dysplasia with atlantoaxial instability [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia with atlantoaxial instability [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Reardon type [ORDO Disease]

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