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congenitaal syndroom van microcefalie, ernstige encefalopathie en progressieve cerebrale atrofie (aandoening)
congenitaal syndroom van microcefalie, ernstige encefalopathie en progressieve cerebrale atrofie
asparaginesynthetasedeficiƫntie
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
Asparagine synthetase deficiency
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21.
Id782757004
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatrophia
Finding sitestructuur van cerebrum
referentieset met complexe 'mapping' naar ICD-10
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified