Autosomal dominant hereditary disorder	Bilateral congenital cataract of eyes	Congenital glaucoma of left eye	Congenital glaucoma of right eye	Congenital total cataract	Developmental hereditary disorder	Hereditary disorder of the visual system	Secondary glaucoma
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Cataract glaucoma syndrome (disorder)
	Cataract glaucoma syndrome
	This syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localized to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye.
	syndroom van cataract en glaucoom

Id	718851007
Status	Primitive

Associated morphology	Opacity
Finding site	Structure of lens of left eye
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	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified