Autosomal recessive hereditary disorder	Chronic brain syndrome	Cortical blindness	Hereditary disorder of nervous system	Hereditary disorder of the visual system	Microcephaly
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Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)
	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
	A rare genetic neuro-ophthalmological syndrome with characteristics of postnatal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
	syndroom van microcefalie, epileptische aanvallen, corticale blindheid en ontwikkelingsachterstand
	syndroom van microcefalie, insulten, corticale blindheid en ontwikkelingsachterstand syndroom van microcefalie, convulsies, corticale blindheid en ontwikkelingsachterstand

Id	1172900005
Status	Primitive

Clinical course

Finding site

Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe

Has interpretation	Below reference range
Interprets	Head circumference

Finding site	Head structure
Occurrence	Infancy

ICD-10 complex map reference set

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G98
Rule	TRUE
Advice	ALWAYS G98
Correlation	SNOMED CT source code to target map code correlation not specified