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congenitale spierdystrofie Paradas-type (aandoening)
congenitale spierdystrofie Paradas-type
Congenital muscular dystrophy Paradas type
Congenital myopathy Paradas type
A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.
Id725420009
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathieën
SNOMED CT to Orphanet simple map199329
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified