autosomaal dominante opticusatrofie
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klassieke vorm van autosomaal dominante opticusatrofie (aandoening)
klassieke vorm van autosomaal dominante opticusatrofie
Autosomal dominant optic atrophy classic form
Autosomal dominant optic atrophy Kjer type
Optic atrophy type 1
Kjer optic atrophy
One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and color vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%.
Id717336005
StatusPrimitive
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.2
TermOpticusatrofie
SNOMED CT to Orphanet simple map98673
SNOMED CT to ICD-10 extended map
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2
CorrelationSNOMED CT source code to target map code correlation not specified