Autosomal recessive hereditary disorder
Congenital hereditary muscular dystrophy
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Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
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.
congenitale spierdystrofie type 1C door genmutatie van fukutine-gerelateerd eiwit
congenitale spierdystrofie type 1C door genetische mutatie van fukutine-gerelateerd eiwit
Id890368007
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
Clinical courseProgressive
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified