spondylometafysaire dysplasie Schmidt-type (aandoening)
spondylometafysaire dysplasie Schmidt-type
SEMD met ernstige genu valgum
spondylometafysaire dysplasie Algerijns type
Spondylometaphyseal dysplasia Schmidt type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93316
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified