80328002: Progressive cone-rod dystrophy (disorder)

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

\Head finding (finding)\Finding of head 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\Progressive cone-rod dystrophy
\Head finding (finding)\Finding of head 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\Progressive cone-rod dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Head finding (finding)\Finding of head 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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy

\Central nervous system finding\Disorder of the central nervous system (disorder)\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive cone-rod dystrophy

\Disorder of visual pathways\Progressive cone-rod dystrophy

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Eye / vision finding\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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Progressive cone-rod dystrophy

\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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive cone-rod dystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive cone-rod dystrophy
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Progressive cone-rod dystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\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\Progressive cone-rod dystrophy
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive cone-rod dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

133294010 Progressive cone-rod dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
821476014 Progressive cone-rod dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1234464015 Cone-rod retinal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4594938019 A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
4594939010 A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal colour vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5447614012 A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5447615013 A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. 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
Progressive cone-rod dystrophy	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Progressive cone-rod dystrophy	Finding site	Retinal structure	false	Inferred relationship	Some
Progressive cone-rod dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Progressive cone-rod dystrophy	Finding site	Retinal structure	false	Inferred relationship	Some	1
Progressive cone-rod dystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Progressive cone-rod dystrophy	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Progressive cone-rod dystrophy	Is a	Disorder of visual pathways	true	Inferred relationship	Some
Progressive cone-rod dystrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Progressive cone-rod dystrophy	Finding site	Neuroepithelial layer	true	Inferred relationship	Some	1
Progressive cone-rod dystrophy	Is a	Autosomal hereditary disorder	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Is a	False	Progressive cone-rod dystrophy	Inferred relationship	Some

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
133294010	Progressive cone-rod dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
821476014	Progressive cone-rod dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234464015	Cone-rod retinal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4594938019	A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
4594939010	A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal colour vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447614012	A rare genetic isolated inherited retinal disorder characterised by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, colour vision alteration, followed by night blindness and loss of peripheral visual field.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447615013	A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core