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X-gebonden myopathie met posturale spieratrofie (aandoening)
X-gebonden myopathie met posturale spieratrofie
X-gebonden myopathie met posturale musculaire atrofie
XMPMA
X-linked myopathy with postural muscle atrophy
XMPMA - X-linked myopathy with postural muscle atrophy
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene.
Id773729007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencevolwassenheid
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified