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Mesomelic dysplasia Savarirayan type (disorder)
Mesomelic dysplasia Savarirayan type
Mesomelic dysplasia with absent fibula and triangular tibia
Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported.
mesomele dysplasie met fibulaire aplasie en driehoekige fibula
mesomele dysplasie, Savarirayan-type
Id715652002
StatusPrimitive
Associated morphologyDysplasia
Finding siteSkeletal system structure
OccurrenceCongenital
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified