Autosomal recessive hereditary disorder
Cerebral atrophy
Congenital microcephaly
Congenital neurological disorder
Developmental hereditary disorder
Global developmental delay
Hereditary degenerative disease of central nervous system
Inborn error of amino acid metabolism
Inherited metabolic disorder of nervous system
Intellectual disability
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Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)
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.
congenitaal syndroom van microcefalie, ernstige encefalopathie en progressieve cerebrale atrofie
asparaginesynthetasedeficiëntie
Id782757004
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAtrophy
Finding siteCerebrum
Has interpretationBelow reference range
InterpretsBirth head circumference
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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