232065000: Goldmann-Favre syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Head finding (finding)\Finding of head region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Eye / vision finding\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Eye / vision finding\Orbit finding\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\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 (disorder)\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Goldmann-Favre syndrome
• \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\Vitreoretinal dystrophy\Goldmann-Favre syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa\Goldmann-Favre syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\Goldmann-Favre syndrome
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Goldmann-Favre syndrome
• \Disease\Disorder of connective tissue (disorder)\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, 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
347717017	Goldmann-Favre syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
620082013	Goldmann-Favre syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5072496019	Enhanced S-cone syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5072497011	Retinoschisis with early nyctalopia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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