Autosomal recessive hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Myofibrillar myopathy
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Fatal infantile hypertonic myofibrillar myopathy (disorder)
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.
fatale infantiele hypertone myofibrillaire myopathie
alfa-B-crystallinegerelateerde infantiele hypertone myofibrillaire myopathie
fatal infantile hypertonic myofibrillar myopathy
Id782883004
StatusPrimitive
Finding siteSkeletal muscle structure
OccurrenceInfancy
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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