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autosomaal dominante progressieve externe oftalmoplegie (aandoening)
autosomaal dominante progressieve externe oftalmoplegie
Autosomal dominant progressive external ophthalmoplegia
adPEO - autosomal dominant progressive external ophthalmoplegia
A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.
Id827115000
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH49.4
TermProgressieve externe oftalmoplegie
SNOMED CT to Orphanet simple map254892
SNOMED CT to ICD-10 extended map
TargetH49.4
RuleTRUE
AdviceALWAYS H49.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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