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X-linked scapuloperoneal muscular dystrophy (disorder)
X-linked scapuloperoneal muscular dystrophy
X-linked scapuloperoneal syndrome
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene.
X-gebonden scapuloperoneale spierdystrofie
X-gebonden scapuloperoneaal syndroom
Id784352007
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified