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syndroom van hereditaire ‘inclusion body’-myopathie, artrogene contractuur en oftalmoplegie (aandoening)
syndroom van hereditaire ‘inclusion body’-myopathie, artrogene contractuur en oftalmoplegie
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
Hereditary inclusion body myopathy type 3
Inclusion body myopathy type 3
Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant.
Id724349009
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
referentieset met complexe 'mapping' naar ICD-10
TargetG71.8
RuleTRUE
AdviceALWAYS G71.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH49.8
RuleTRUE
AdviceALWAYS H49.8
CorrelationSNOMED CT source code to target map code correlation not specified