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Spondylometaphyseal dysplasia Schmidt type (disorder)
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.
spondylometafysaire dysplasie Schmidt-type
SEMD met ernstige genu valgum
spondylometafysaire dysplasie Algerijns type
Id719304005
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified