autosomaal dominante distale motorische neuropathie
complexe autosomaal dominante hereditaire spastische paraplegie
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autosomaal dominante spastische paraplegie type 17 (aandoening)
autosomaal dominante spastische paraplegie type 17
SPG17
Autosomal dominant spastic paraplegia type 17
Silver disease
A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical.
Id230263009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Finding sitestructuur van perifeer zenuwstelsel
Finding sitestructuur van zenuw
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
TargetQ87.1
TermCongenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte
SNOMED CT to Orphanet simple map100998
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