autosomaal recessieve hereditaire aandoening
congenitale musculaire dystrofie
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congenitale spierdystrofie type 1C door genmutatie van fukutine-gerelateerd eiwit (aandoening)
congenitale spierdystrofie type 1C door genmutatie van fukutine-gerelateerd eiwit
congenitale spierdystrofie type 1C door genetische mutatie van fukutine-gerelateerd eiwit
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life.
Id890368007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified