Autosomal recessive hereditary disorder	Developmental hereditary disorder	Hereditary disorder of nervous system	Macrogyria
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Autosomal recessive frontotemporal pachygyria (disorder)
	Autosomal recessive frontotemporal pachygyria
	A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.
	autosomaal recessieve frontotemporale pachygyrie

Id	773394007
Status	Primitive

Associated morphology	Enlargement
Finding site	Structure of cerebral gyrus
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3
Correlation	SNOMED CT source code to target map code correlation not specified