719455002: kegeldystrofie met supranormale staafrespons (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cone dystrophy with supernormal rod response (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Cone dystrophy\Cone dystrophy with supernormal rod response (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

3316424013 Cone dystrophy with supernormal rod response (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316425014 Cone dystrophy with supernormal rod response en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316426010 Cone dystrophy with supernormal rod electroretinogram en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6642401000146111 kegeldystrofie met supranormale staafrespons nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6642411000146113 kegeldystrofie met supranormale staafrespons (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3316427018 Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia and occasionally nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of the disease is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cone dystrophy with supernormal rod response (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cone dystrophy with supernormal rod response (disorder)	Is a	Cone dystrophy	true	Inferred relationship	Some
Cone dystrophy with supernormal rod response (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Cone dystrophy with supernormal rod response (disorder)	Finding site	Retinal structure	false	Inferred relationship	Some	1
Cone dystrophy with supernormal rod response (disorder)	Finding site	Cone of retina	true	Inferred relationship	Some	1
Cone dystrophy with supernormal rod response (disorder)	Finding site	Rod of retina	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3316424013	Cone dystrophy with supernormal rod response (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316425014	Cone dystrophy with supernormal rod response	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316426010	Cone dystrophy with supernormal rod electroretinogram	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6642401000146111	kegeldystrofie met supranormale staafrespons	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6642411000146113	kegeldystrofie met supranormale staafrespons (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3316427018	Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia and occasionally nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of the disease is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core