spondyloepiphyseal dysplasia with atlantoaxial instability

Preferred Label : spondyloepiphyseal dysplasia with atlantoaxial instability;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0563772;

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]
Related record
- spondyloepiphyseal dysplasia with atlantoaxial instability [MeSH Supplementary 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]