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spasticiteit met hyperglycinemie beginnend op kinderleeftijd (aandoening)
spasticiteit met hyperglycinemie beginnend op kinderleeftijd
syndroom van spasticiteit, ataxie en afwijkende gang
Childhood-onset spasticity with hyperglycinemia
Spasticity, ataxia, gait anomalies syndrome
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
A rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.
Id773492007
StatusPrimitive
Has interpretationverhoogd
Interpretsspiertonus
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified