Spondyloepiphyseal dysplasia, Kimberley type

Preferred Label : Spondyloepiphyseal dysplasia, Kimberley type;

ICD-11 definition : Spondyloepiphyseal dysplasia (SED), Kimberley type is a form of SED characterized by short stature and premature degenerative arthropathy.;

Details

Origin ID

485470320;

UMLS CUI

C1842149;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia Kimberley type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Kimberley type [ORDO Disease]
- Spondyloepiphyseal dysplasia, kimberley type [OMIM Phenotype]
- spondyloepiphyseal dysplasia, kimberley type [MeSH concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia Kimberley type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Kimberley type [ORDO Disease]
- Spondyloepiphyseal dysplasia, kimberley type [OMIM Phenotype]
- spondyloepiphyseal dysplasia Kimberley type [DO Concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH concept]
- spondyloepiphyseal dysplasia, kimberley type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients