syndroom van spastische paraplegie, opticusatrofie en neuropathie en hieraan gerelateerde aandoening
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syndroom van spastische paraplegie, opticusatrofie en neuropathie (aandoening)
syndroom van spastische paraplegie, opticusatrofie en neuropathie
Spastic paraplegia, optic atrophy, neuropathy syndrome
SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome
A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.
Id725139005
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Clinical courseprogressief
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
InterpretsMovement
Finding sitestructuur van linker onderste extremiteit
Finding sitestructuur van rechter onderste extremiteit
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
TargetH47.2
TermOpticusatrofie
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map320406
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified