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 eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\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\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.
\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\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.
\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\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.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa (disorder)\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.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\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\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.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\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.
\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\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.
\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\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.
\Head finding (finding)\Finding of head region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\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\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.
\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\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.
\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\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.
\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\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.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa (disorder)\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.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\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.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of vitreous body\Vitreous degeneration\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.

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\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.

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\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\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.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\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.
\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\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.
\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\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.
\Eye / vision finding\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\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\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.
\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\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.
\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\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.
\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\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.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa (disorder)\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.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.

\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\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.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Vitreous degeneration\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.
\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\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.
\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\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.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\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.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\Disease\Degenerative disorder\Degenerative disorder of eye\Vitreous degeneration\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.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\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\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.
\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\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.
\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\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.
\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\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.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa (disorder)\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.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Vitreoretinal dystrophy\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.
\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\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.
\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\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.
\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\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.
\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\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.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Chronic disease of ocular adnexa (disorder)\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.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\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.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\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.
\Disease\Disorder of connective tissue (disorder)\Disorder of vitreous body\Vitreous degeneration\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.
\Disease\Chronic disease\Chronic disease of ocular adnexa (disorder)\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.
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Vitreous degeneration\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.

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

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

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

4804781000005118 Goldmann-Favres syndrom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Retinal disorder	false	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	Hereditary vitreoretinopathy	false	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.	Finding site	Composite structure of hyaluronic acid gel within a stromal network of collagen fibrils	true	Inferred relationship	Some	1
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.	Finding site	Retinal structure	true	Inferred relationship	Some	2
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	Chronic disease of ocular adnexa (disorder)	true	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	Connective tissue hereditary disorder	true	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	Vitreous degeneration	true	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	Vitreoretinal dystrophy	true	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	Autosomal recessive hereditary disorder	true	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.	Clinical course	Progressive	true	Inferred relationship	Some	3
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.	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
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.	Associated morphology	Dystrophy	true	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
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
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
4804781000005118	Goldmann-Favres syndrom	da	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Danish module (core metadata concept)