Spondyloepiphyseal dysplasia, MacDermot type

Preferred Label : Spondyloepiphyseal dysplasia, MacDermot type;

ICD-11 definition : Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.;

Details

Origin ID

800575171;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, MacDermot type [ORDO Disease]
- Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [OMIM Phenotype]
- spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [MeSH concept]
- spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [MeSH Supplementary Concept]

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