|||||
alfa-B-crystallinegerelateerde laat optredende myopathie (aandoening)
alfa-B-crystallinegerelateerde laat optredende myopathie
Alpha-B crystallin-related late-onset myopathy
Late-onset distal crystallinopathy
Alpha-B crystallin-related late-onset distal myopathy
A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23.
Id783770002
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
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