myopathie met cytoplasmatische inclusielichaampjes
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desminegerelateerde myopathie met Mallory-lichaampje-achtige inclusie (aandoening)
desminegerelateerde myopathie met Mallory-lichaampje-achtige inclusie
vroeg optredende desminegerelateerde myopathie
desminegerelateerde myopathie met Mallory-lichaampje-achtig insluitsel
Desmin related myopathy with Mallory body-like inclusions
Early onset desmin related myopathy
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.
Id715646003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map84132
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