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fatale infantiele hypertone myofibrillaire myopathie (aandoening)
fatale infantiele hypertone myofibrillaire myopathie
alfa-B-crystallinegerelateerde infantiele hypertone myofibrillaire myopathie
fatal infantile hypertonic myofibrillar myopathy
Fatal infantile hypertonic myofibrillar myopathy
A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23.
Id782883004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified