247182006: Vitreoretinal degeneration (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\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Peripheral retinal degeneration\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Head finding (finding)\Finding of head region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\...

\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration

\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Vitreoretinal degeneration
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Peripheral retinal degeneration\Vitreoretinal degeneration
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Vitreoretinal degeneration
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Peripheral retinal degeneration\Vitreoretinal degeneration
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Eye / vision finding\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Vitreoretinal degeneration
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Peripheral retinal degeneration\Vitreoretinal degeneration
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Disease\Degenerative disorder\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Disease\Degenerative disorder\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Vitreoretinal degeneration
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Peripheral retinal degeneration\Vitreoretinal degeneration
\Disease\Degenerative disorder\Degenerative disorder of eye\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Vitreoretinal degeneration
\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\Vitreous degeneration\Vitreoretinal degeneration
\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\Atrophic retina (disorder)\Vitreoretinal degeneration
\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\Peripheral retinal degeneration\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Disease\Disorder of connective tissue (disorder)\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Atrophy of soft tissue of orbit (disorder)\Vitreoretinal degeneration
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Vitreoretinal degeneration

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

369128014 Vitreoretinal degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

637321016 Vitreoretinal degeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2396961000005110 Vitreoretinal degeneration 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
Vitreoretinal degeneration	Is a	Retina atrophic	false	Inferred relationship	Some
Vitreoretinal degeneration	Is a	Vitreous degeneration	true	Inferred relationship	Some
Vitreoretinal degeneration	Finding site	Retinal structure	false	Inferred relationship	Some	1
Vitreoretinal degeneration	Finding site	Peripheral retina	false	Inferred relationship	Some	1
Vitreoretinal degeneration	Associated morphology	Atrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Vitreoretinal degeneration	Finding site	Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils	false	Inferred relationship	Some	2
Vitreoretinal degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some
Vitreoretinal degeneration	Is a	Atrophic retina (disorder)	true	Inferred relationship	Some
Vitreoretinal degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Vitreoretinal degeneration	Is a	Peripheral retinal degeneration	true	Inferred relationship	Some
Vitreoretinal degeneration	Associated morphology	Atrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Vitreoretinal degeneration	Finding site	Peripheral retina	true	Inferred relationship	Some	1
Vitreoretinal degeneration	Finding site	Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils	true	Inferred relationship	Some	2
Vitreoretinal degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Vitreoretinal degeneration	Associated morphology	Atrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Vitreoretinal degeneration	Is a	Atrophy of soft tissue of orbit (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Snail-track retinal degeneration	Is a	False	Vitreoretinal degeneration	Inferred relationship	Some
Peripheral snowflake retinal degeneration	Is a	False	Vitreoretinal degeneration	Inferred relationship	Some
Retina - peripheral cystic tufts (disorder)	Is a	False	Vitreoretinal degeneration	Inferred relationship	Some
retina - perifere paravaskulære adhærencer	Is a	False	Vitreoretinal degeneration	Inferred relationship	Some
Peripheral retina - white without pressure	Is a	True	Vitreoretinal degeneration	Inferred relationship	Some
Peripheral retina - white with pressure	Is a	True	Vitreoretinal degeneration	Inferred relationship	Some
Retinal lattice degeneration	Is a	False	Vitreoretinal degeneration	Inferred relationship	Some
Vitreoretinal tuft (disorder)	Is a	True	Vitreoretinal degeneration	Inferred relationship	Some
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Is a	True	Vitreoretinal degeneration	Inferred relationship	Some
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.	Is a	True	Vitreoretinal degeneration	Inferred relationship	Some

This concept is not in any reference sets