Autosomal recessive hereditary disorder	Congenital neurological disorder	Cortical blindness	Developmental hereditary disorder	Disorder of visual pathways	Hereditary disorder of nervous system	Hereditary disorder of the visual system	Intellectual disability	Multiple malformation syndrome with facial-limb defects as major feature	Polydactyly
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Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
	Cortical blindness, intellectual disability, polydactyly syndrome
	Syndrome with characteristics of cortical blindness, intellectual deficit and polydactyly. This combination was found in three children of first-cousin parents. The facial features included prominent forehead, short nose, long philtrum and microretrognathia. Two of the three children died of acute gastroenteritis. Growth and psychomotor development were severely delayed.
	syndroom van corticale blindheid, verstandelijke beperking en polydactylie
	syndroom van corticale blindheid, mentale retardatie en polydactylie syndroom van corticale blindheid, verstandelijke handicap en polydactylie

Id	732251003
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Visual pathway structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Supernumerary structure
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	H47.6
Rule	TRUE
Advice	ALWAYS H47.6 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q69.9
Rule	TRUE
Advice	ALWAYS Q69.9
Correlation	SNOMED CT source code to target map code correlation not specified