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distale myopathie type 1 (aandoening)
distale myopathie type 1
juveniele distale myopathie van type Laing
MPD1
ziekte van Gowers-Laing
Laing early-onset distal myopathy
Distal myopathy type 1
Gowers disease
Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait.
Id764859001
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencekinderleeftijd
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG72.8
TermOverige gespecificeerde myopathie├źn
SNOMED CT to Orphanet simple map59135
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified