764969006: Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.
• \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\Hereditary retinal dystrophy primarily involving retinal pigment epithelium\Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655854012	Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655849015	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655850015	Biallelic RPE65 mutation associated retinal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655851016	Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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