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fatale infantiele hypertone myofibrillaire myopathie (aandoening)
fatale infantiele hypertone myofibrillaire myopathie
fatal infantile hypertonic myofibrillar myopathy
alfa-B-crystallinegerelateerde infantiele hypertone myofibrillaire myopathie
Fatal infantile hypertonic myofibrillar myopathy
Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by 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.
Id782883004
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathieën
SNOMED CT to Orphanet simple map280553
SNOMED CT to ICD-10 extended map
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