Spondyloepiphyseal dysplasia tarda, Kohn type

Preferred Label : Spondyloepiphyseal dysplasia tarda, Kohn type;

ICD-11 definition : Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.;

Details

Origin ID

758715188;

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 [ORDO Disease]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH concept]

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