autosomaal recessieve 'limb-girdle' spierdystrofie
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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2C (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2C
autosomaal recessieve gordeldystrofie type 2C
LGMD2C
'limb-girdle muscular dystrophy' door gamma-sarcoglycaandeficiëntie
gamma-sarcoglycanopathie
Autosomal recessive limb girdle muscular dystrophy type 2C
Limb girdle muscular dystrophy due to gamma-sarcoglycan deficiency
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Id718176005
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.0
TermSpierdystrofie
SNOMED CT to Orphanet simple map353
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified