232065000: Goldmann-Favre syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Finding of head region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome

\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Eye / vision finding\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Goldmann-Favre syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Goldmann-Favre syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Disorder of vitreous cavity\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Goldmann-Favre syndrome
\Disease\Disorder of connective tissue\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
\Disease\Chronic disease\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

347717017 Goldmann-Favre syndrome en Synonym Active Case sensitive SNOMED CT core

5072496019 Enhanced S-cone syndrome en Synonym Active Initial character case insensitive SNOMED CT core

5072497011 Retinoschisis with early nyctalopia en Synonym Active Case insensitive SNOMED CT core

620082013 Goldmann-Favre syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5072498018 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. en Definition Active Case sensitive SNOMED CT core

5072499014 A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular oedema, 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Goldmann-Favre syndrome	Is a	Chronic disease of ocular adnexa	true	Inferred relationship	Some
Goldmann-Favre syndrome	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Goldmann-Favre syndrome	Is a	Vitreous degeneration	true	Inferred relationship	Some
Goldmann-Favre syndrome	Is a	Vitreoretinal dystrophy	true	Inferred relationship	Some
Goldmann-Favre syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Goldmann-Favre syndrome	Clinical course	Progressive	true	Inferred relationship	Some	3
Goldmann-Favre syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Goldmann-Favre syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Goldmann-Favre syndrome	Is a	Retinal disorder	false	Inferred relationship	Some
Goldmann-Favre syndrome	Is a	Hereditary vitreoretinopathy	false	Inferred relationship	Some
Goldmann-Favre syndrome	Finding site	Vitreous body structure	true	Inferred relationship	Some	1
Goldmann-Favre syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
347717017	Goldmann-Favre syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5072496019	Enhanced S-cone syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5072497011	Retinoschisis with early nyctalopia	en	Synonym	Active	Case insensitive	SNOMED CT core
620082013	Goldmann-Favre syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5072498018	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.	en	Definition	Active	Case sensitive	SNOMED CT core
5072499014	A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular oedema, 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.	en	Definition	Active	Case sensitive	SNOMED CT core