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autosomaal recessieve spastische paraplegie type 23 (aandoening)
autosomaal recessieve spastische paraplegie type 23
SPG23
syndroom van Lison
Autosomal recessive spastic paraplegia type 23
Lison syndrome
Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome
A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
Id726608002
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
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