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opticusatrofie van Leber-plus (aandoening)
opticusatrofie van Leber-plus
Leber plus disease
Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations.
Id719430008
StatusPrimitive
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.2
TermOpticusatrofie
SNOMED CT to Orphanet simple map99718
SNOMED CT to ICD-10 extended map
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