Preferred Label : Spondylometaphyseal dysplasia - cone-rod dystrophy;
ICD-11 definition : Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the
association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening
of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal
growth retardation and progressive visual impairment due to cone-rod dystrophy.;
Origin ID : 430156722;
Currated CISMeF NLP mapping
Spondylometaphyseal dysplasia - cone-rod dystrophy syndrome is characterised by the
association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening
of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal
growth retardation and progressive visual impairment due to cone-rod dystrophy.
