733626002: Atypical Norrie disease due to monosomy Xp11.3 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3472825017	Atypical Norrie disease due to monosomy Xp11.3 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3472826016	Atypical Norrie disease due to monosomy Xp11.3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3472827013	Atypical Norrie disease due to Xp11.3 microdeletion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403839016	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403840019	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterised by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3472825017	Atypical Norrie disease due to monosomy Xp11.3 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3472826016	Atypical Norrie disease due to monosomy Xp11.3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3472827013	Atypical Norrie disease due to Xp11.3 microdeletion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3472828015	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X. The disease has principle characteristics of classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay and moderate to severe mental handicap. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403839016	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403840019	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterised by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
539311000274119	Atypisches Norrie-Syndrom durch Del(X)(p11.3)	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
603381000274112	Atypisches Norrie-Syndrom durch Mikrodeletion Xp11.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914061000172111	maladie de Norrie atypique due à une monosomie Xp11.3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
936051000172111	maladie de Norrie atypique due à une del(X)(p11.3)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914061000172111	maladie de Norrie atypique due à une monosomie Xp11.3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
936051000172111	maladie de Norrie atypique due à une del(X)(p11.3)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
539311000274119	Atypisches Norrie-Syndrom durch Del(X)(p11.3)	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
603381000274112	Atypisches Norrie-Syndrom durch Mikrodeletion Xp11.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411901001000119	Norrie-Syndrom, atypisches, durch Mikrodeletion Xp11.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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