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718851007: Cataract glaucoma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3314135012 Cataract glaucoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401887015 Cataract-glaucoma 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401888013 Cataract-glaucoma 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314134011 Cataract glaucoma syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314134011 Cataract glaucoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314135012 Cataract glaucoma syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314135012 Cataract glaucoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401887015 Cataract-glaucoma 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401888013 Cataract-glaucoma 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3414681001000118 Katarakt-Glaukom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5796321000241113 syndrome de cataracte et glaucome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5796321000241113 syndrome de cataracte et glaucome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414681001000118 Katarakt-Glaukom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cataract glaucoma syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Congenital total cataract false Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Secondary glaucoma true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Bilateral cataracts false Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Finding site Structure of lens of left eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract glaucoma syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract glaucoma syndrome (disorder) Finding site Structure of lens of right eye false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Finding site Structure of lens of left eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cataract glaucoma syndrome (disorder) Is a Congenital cataract of bilateral eyes (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract glaucoma syndrome (disorder) Finding site Structure of lens of right eye true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract glaucoma syndrome (disorder) Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract glaucoma syndrome (disorder) Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cataract glaucoma syndrome (disorder) Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cataract glaucoma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Congenital glaucoma of left eye true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Congenital glaucoma of right eye (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Interprets Red reflex (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract glaucoma syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cataract glaucoma syndrome (disorder) Is a Mature cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a Glaucoma of bilateral eyes (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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