232062002: Hereditary vitreoretinopathy (disorder)

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

\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Hereditary vitreoretinopathy
\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Head finding (finding)\Finding of head region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Hereditary vitreoretinopathy
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Eye / vision finding\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary vitreoretinopathy

\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary vitreoretinopathy
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Hereditary vitreoretinopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary vitreoretinopathy
\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary vitreoretinopathy
\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)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\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\Hereditary vitreoretinopathy
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\Hereditary vitreoretinopathy
\Disease\Disorder of connective tissue (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

347713018 Hereditary vitreoretinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

620078011 Hereditary vitreoretinopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2361441000005111 Hereditær vitreoretinopati da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary vitreoretinopathy	Is a	Disorder of vitreous body	true	Inferred relationship	Some
Hereditary vitreoretinopathy	Finding site	Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils	true	Inferred relationship	Some	1
Hereditary vitreoretinopathy	Is a	Retinopati	false	Inferred relationship	Some
Hereditary vitreoretinopathy	Finding site	Retinal structure	true	Inferred relationship	Some	2
Hereditary vitreoretinopathy	Is a	Retinal disorder	true	Inferred relationship	Some
Hereditary vitreoretinopathy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Hereditary vitreoretinopathy	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial exudative vitreoretinopathy	Is a	True	Hereditary vitreoretinopathy	Inferred relationship	Some
Wagner syndrome	Is a	True	Hereditary vitreoretinopathy	Inferred relationship	Some
A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course.	Is a	False	Hereditary vitreoretinopathy	Inferred relationship	Some
Stickler syndrome	Is a	True	Hereditary vitreoretinopathy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
347713018	Hereditary vitreoretinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
620078011	Hereditary vitreoretinopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2361441000005111	Hereditær vitreoretinopati	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)