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Autosomal dominant limb-girdle muscular dystrophy type 1H (disorder)
Autosomal dominant limb-girdle muscular dystrophy type 1H
A subtype of autosomal dominant limb-girdle muscular dystrophy with characteristics of slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.
autosomaal dominante 'limb-girdle'-spierdystrofie type 1H
autosomaal dominante 'limb-girdle muscular dystrophy' type 1H
LGMD1H
autosomaal dominante gordeldystrofie type 1H
Id771334000
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified