715647007: Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (disorder)
\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\Bothnia retinal dystrophy (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Bothnia retinal dystrophy (disorder)
\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\Bothnia retinal dystrophy (disorder)
\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\Bothnia retinal dystrophy (disorder)

\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\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Bothnia retinal dystrophy (disorder)
\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\Bothnia retinal dystrophy (disorder)
\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\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Bothnia retinal dystrophy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Bothnia retinal dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Bothnia retinal dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Bothnia retinal dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (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\Bothnia retinal dystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303283016 Bothnia retinal dystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303284010 Bothnia retinal dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303285011 Vasterbotten dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303286012 Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3866011000052111 retinal dystrofi av Bothniatyp sv Synonym (core metadata concept) Active Only initial character 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
Bothnia retinal dystrophy (disorder)	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Bothnia retinal dystrophy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Bothnia retinal dystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Bothnia retinal dystrophy (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303283016	Bothnia retinal dystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303284010	Bothnia retinal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303285011	Vasterbotten dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303286012	Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866011000052111	retinal dystrofi av Bothniatyp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)