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benigne Samaritaanse congenitale myopathie (aandoening)
benigne Samaritaanse congenitale myopathie
Benign Samaritan congenital myopathy
A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Id770787005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified