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congenitale spierdystrofie type 1D door genmutatie van 'LARGE'- gen (aandoening)
congenitale spierdystrofie type 1D door genmutatie van 'LARGE'- gen
congenitale spierdystrofie type 1D door genetische mutatie van 'LARGE'- gen
Congenital muscular dystrophy type 1D large gene mutation
Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration.
Id890395002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified