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Metaphyseal dysplasia Braun Tinschert type (disorder)
Metaphyseal dysplasia Braun Tinschert type
Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant.
metafysaire dysplasie Braun-Tinschert-type
Id717221005
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsBone density scan
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.5
RuleTRUE
AdviceALWAYS Q78.5
CorrelationSNOMED CT source code to target map code correlation not specified