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718851007: Cataract glaucoma syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314134011 Cataract glaucoma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3314135012 Cataract glaucoma syndrome en Synonym Active Case insensitive SNOMED CT core
3314136013 This syndrome is characterised 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 (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. en Definition Active Case sensitive SNOMED CT core
3314137016 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cataract glaucoma syndrome Occurrence Congenital true Inferred relationship Some 1
Cataract glaucoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Cataract glaucoma syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Cataract glaucoma syndrome Finding site Structure of lens of right eye true Inferred relationship Some 1
Cataract glaucoma syndrome Associated morphology Cataract false Inferred relationship Some 2
Cataract glaucoma syndrome Associated morphology Cataract false Inferred relationship Some 1
Cataract glaucoma syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 1
Cataract glaucoma syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 2
Cataract glaucoma syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Cataract glaucoma syndrome Is a Congenital glaucoma of left eye true Inferred relationship Some
Cataract glaucoma syndrome Is a Congenital glaucoma of right eye true Inferred relationship Some
Cataract glaucoma syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Cataract glaucoma syndrome Is a Congenital total cataract true Inferred relationship Some
Cataract glaucoma syndrome Is a Secondary glaucoma true Inferred relationship Some
Cataract glaucoma syndrome Is a Bilateral cataracts false Inferred relationship Some
Cataract glaucoma syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Cataract glaucoma syndrome Associated morphology Congenital cataract false Inferred relationship Some 2
Cataract glaucoma syndrome Occurrence Congenital true Inferred relationship Some 2
Cataract glaucoma syndrome Finding site Structure of lens of left eye true Inferred relationship Some 2
Cataract glaucoma syndrome Associated morphology Congenital cataract false Inferred relationship Some 3
Cataract glaucoma syndrome Occurrence Congenital false Inferred relationship Some 3
Cataract glaucoma syndrome Finding site Structure of lens of right eye false Inferred relationship Some 2
Cataract glaucoma syndrome Finding site Structure of lens of left eye false Inferred relationship Some 3
Cataract glaucoma syndrome Is a Bilateral congenital cataract of eyes true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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