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autosomaal recessieve opticusatrofie type 7 (aandoening)
autosomaal recessieve opticusatrofie type 7
autosomaal recessieve atrofie van nervus opticus type 7
Autosomal recessive optic atrophy type 7
Autosomal recessive optic atrophy OPA7 type
Autosomal recessive optic atrophy OPA7 (optic atrophy type 7)
A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
Id783065004
StatusPrimitive
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
referentieset met complexe 'mapping' naar ICD-10
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified