Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital cataract	Congenital sensorineural hearing loss	Developmental delay	Developmental hereditary disorder	Disorder of ear	Disorder of sensory function	Hearing loss associated with syndrome	Hereditary disorder of the visual system	Inherited metabolic disorder of nervous system
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Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)
	Congenital cataract, hearing loss, severe developmental delay syndrome
	Lethal neurodegenerative disorder due to copper transport defect Congenital cataract, deafness, severe developmental delay syndrome
	A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.
	syndroom van congenitaal cataract, gehoorverlies en ernstige ontwikkelingsachterstand
	syndroom van congenitaal cataract, gehoorverlies en ernstige vertraging in ontwikkeling letale neurodegeneratieve stoornis door kopertransportdefect

Id	773648002
Status	Primitive

Finding site	Ear structure
Occurrence	Congenital

Associated morphology	Opacity
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Finding site	Structure of nervous system
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F89
Rule	TRUE
Advice	ALWAYS F89
Correlation	SNOMED CT source code to target map code correlation not specified