spondylometafysaire dysplasie Kozlowski-type (aandoening)
spondylometafysaire dysplasie Kozlowski-type
Kozlowski spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93314
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified