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congenitale myopathie met interne nuclei en atypische kernen (aandoening)
congenitale myopathie met interne nuclei en atypische kernen
CNM4
centronucleaire myopathie type 4
Congenital myopathy with internal nuclei and atypical cores
Centronuclear myopathy type 4
A rare genetic skeletal muscle disease with characteristics of neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Id764945007
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map319160
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified