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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
Inclusion body myopathy type 3
Hereditary inclusion body myopathy type 3
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
Id724349009
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.8
TermOverige gespecificeerde primaire spieraandoeningen
TargetQ68.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
TargetH49.8
TermOverige gespecificeerde vormen van paralytische strabismus
SNOMED CT to Orphanet simple map79091
SNOMED CT to ICD-10 extended map
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