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congenitale spierdystrofie door LMNA-mutatie (aandoening)
congenitale spierdystrofie door LMNA-mutatie
LMNA-gerelateerde congenitale spierdystrofie
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to lamin A/C mutation
LMNA-related congenital muscular dystrophy
Congenital muscular dystrophy due to LMNA (lamin A/C) mutation
A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22.
Id771272007
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 myopathieƫn
SNOMED CT to Orphanet simple map157973
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified