Autosomal dominant hereditary disorder	Chronic disease of musculoskeletal system	Hereditary disorder of musculoskeletal system	Hereditary myopathy	Myofibrillar myopathy
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Alpha-B crystallin-related late-onset myopathy (disorder)
	Alpha-B crystallin-related late-onset myopathy
	Alpha-B crystallin-related late-onset distal myopathy Late-onset distal crystallinopathy
	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.
	alfa-B-crystallinegerelateerde laat optredende myopathie

Id	783770002
Status	Primitive

Finding site	Skeletal muscle structure
Occurrence	Adulthood

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G71.0
Rule	TRUE
Advice	ALWAYS G71.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified