774152007: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder)

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

\Finding of head and neck region\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
\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\Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3728155011 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728156012 Retinal dystrophy with inner nuclear layer and ganglion cell anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728157015 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728158013 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3728159017 A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4217481000052118 retinal dystrofi med inre retinal dysfunktion och gangliecellsanomalier sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Finding site	Retinal structure	true	Inferred relationship	Some	1
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Associated morphology	Dystrophy	true	Inferred relationship	Some	1

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
3728155011	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728156012	Retinal dystrophy with inner nuclear layer and ganglion cell anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728157015	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728158013	A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728159017	A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4217481000052118	retinal dystrofi med inre retinal dysfunktion och gangliecellsanomalier	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)