Autosomal recessive hereditary disorder	Bilateral congenital cataract of eyes	Congenital porencephaly	Developmental hereditary disorder	Hereditary disorder of nervous system	Hereditary disorder of the visual system	Multiple system malformation syndrome
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Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)
	Porencephaly, microcephaly, bilateral congenital cataract syndrome
	A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
	syndroom van porencefalie, microcefalie en bilateraal congenitaal cataract

Id	773627004
Status	Primitive

Associated morphology	Opacity
Finding site	Structure of lens of left eye
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Cystic dilatation
Finding site	Brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Opacity
Finding site	Structure of lens of right eye
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q04.6
Rule	TRUE
Advice	ALWAYS Q04.6
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02
Correlation	SNOMED CT source code to target map code correlation not specified

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