Autosomal recessive hereditary disorder	Cerebral atrophy	Congenital microcephaly	Congenital neurological disorder	Developmental hereditary disorder	Disorder of cerebral cortex	Hereditary cerebellar degeneration	Multiple system malformation syndrome	Refractory epilepsy
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Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)
	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
	A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21.
	syndroom van diffuse cerebrale en cerebellaire atrofie, therapieresistente epilepsie en progressieve microcefalie

Id	782737003
Status	Primitive

Associated morphology	Diffuse atrophy
Finding site	Cerebellar vermis structure

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Diffuse atrophy
Finding site	Structure of cerebral cortex

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G98
Rule	TRUE
Advice	ALWAYS G98 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified