Autosomal recessive muscular dystrophy with limb girdle distribution
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Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder)
Autosomal recessive limb girdle muscular dystrophy type 2Q
A form of limb-girdle muscular dystrophy with characteristics of proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Q
autosomaal recessieve gordeldystrofie type 2Q
LGMD2Q
'limb-girdle muscular dystrophy' door plectinedeficiëntie
Id726615005
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified