autosomaal recessieve 'limb-girdle' spierdystrofie
|
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2B (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2B
autosomaal recessieve gordeldystrofie type 2B
'limb-girdle muscular dystrophy' door dysferlinedeficiëntie
LGMD2B
Autosomal recessive limb girdle muscular dystrophy type 2B
Limb girdle muscular dystrophy due to dysferlin deficiency
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Id718179003
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 map268
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