722066001: Oligocone trichromacy (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Oligocone trichromacy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Oligocone trichromacy

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

Descriptions:

Id Description Lang Type Status Case? Module

3330453012 Oligocone trichromacy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330454018 Oligocone trichromacy en Synonym Active Case insensitive SNOMED CT core

3330455017 Oligocone syndrome en Synonym Active Case insensitive SNOMED CT core

3332507014 A rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal color vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal color vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal color vision. en Definition Active Case sensitive SNOMED CT core

3332509012 A rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal colour vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal colour vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal colour vision. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oligocone trichromacy	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Oligocone trichromacy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Oligocone trichromacy	Finding site	Retinal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330453012	Oligocone trichromacy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330454018	Oligocone trichromacy	en	Synonym	Active	Case insensitive	SNOMED CT core
3330455017	Oligocone syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332507014	A rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal color vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal color vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal color vision.	en	Definition	Active	Case sensitive	SNOMED CT core
3332509012	A rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal colour vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal colour vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal colour vision.	en	Definition	Active	Case sensitive	SNOMED CT core