autosomaal recessieve 'limb-girdle' spierdystrofie
|
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2G (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2G
LGMD2G
'limb-girdle muscular dystrophy' door telethoninedeficiëntie
autosomaal recessieve gordeldystrofie type 2G
Autosomal recessive limb girdle muscular dystrophy type 2G
Limb girdle muscular dystrophy due to telethonin deficiency
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Id720522001
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 map34514
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