Autosomal dominant hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Melorheostosis
Osteopoikilosis
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Melorheostosis with osteopoikilosis (disorder)
Melorheostosis with osteopoikilosis
Mixed sclerosing bone dystrophy
MSBD (mixed sclerosing bone dystrophy) syndrome
A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant.
Id1197053003
StatusPrimitive
Has interpretationAbove reference range
InterpretsBone density scan
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyBony sclerosis
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetM85.89
RuleTRUE
AdviceALWAYS M85.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified