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autosomale spastische paraplegie type 72 (aandoening)
autosomale spastische paraplegie type 72
autosomale spastische paraparese type 72
SPG72
Autosomal spastic paraplegia type 72
Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.
Id782727008
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
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 map401849
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified