complexe autosomaal dominante hereditaire spastische paraplegie
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autosomaal dominante spastische paraplegie type 36 (aandoening)
autosomaal dominante spastische paraplegie type 36
SPG36
Autosomal dominant spastic paraplegia type 36
A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24.
Id723819007
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Clinical courseprogressief
InterpretsMovement
Finding sitestructuur van rechter onderste extremiteit
Finding sitestructuur van linker 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
SNOMED CT to Orphanet simple map320365
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