spondyloepiphyseal dysplasia tarda with mental retardation

Preferred Label : spondyloepiphyseal dysplasia tarda with mental retardation;

Origin ID

C564796;

UMLS CUI

C1849053;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia tarda Kohn type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda with impaired intellectual development [OMIM Phenotype]
- Spondyloepiphyseal dysplasia tarda, Kohn type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia tarda, Kohn type [ORDO Disease]
MeSH term(s) associated for indexing
- intellectual disability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia tarda with impaired intellectual development [OMIM Phenotype]
- Spondyloepiphyseal dysplasia tarda, Kohn type [ORDO Disease]
- spondyloepiphyseal dysplasia tarda with intellectual disability [DO Concept]