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

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\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
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Finding of head region\Disorder of eye region\Disorder of eye proper\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
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Finding of head region\Globe finding\Disorder of eye proper\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
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Finding of head region\Globe finding\Disorder of eye proper\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 of head\Disorder of eye region\Disorder of eye proper\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 of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Disorder of head\Disorder of eye region\Disorder of eye proper\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 of head\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

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Eye / vision finding\Globe finding\Disorder of eye proper\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
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Eye / vision finding\Globe finding\Disorder of eye proper\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
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\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
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\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
\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

\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\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
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\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
\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
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\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
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\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
\Disease\Disorder of head\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
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Atypical Norrie disease due to monosomy Xp11.3
\Disease\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
\Disease\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
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Developmental 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
\Disease\Developmental 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

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

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 SNOMED CT core module

3472826016 Atypical Norrie disease due to monosomy Xp11.3 en Synonym Active Only initial character case insensitive SNOMED CT core module

3472827013 Atypical Norrie disease due to Xp11.3 microdeletion en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atypical Norrie disease due to monosomy Xp11.3	Is a	Anomaly of chromosome X	true	Inferred relationship	Existential restriction modifier
Atypical Norrie disease due to monosomy Xp11.3	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier
Atypical Norrie disease due to monosomy Xp11.3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Atypical Norrie disease due to monosomy Xp11.3	Finding site	Sex chromosome X	true	Inferred relationship	Existential restriction modifier	2
Atypical Norrie disease due to monosomy Xp11.3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Atypical Norrie disease due to monosomy Xp11.3	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	3
Atypical Norrie disease due to monosomy Xp11.3	Associated morphology	Deletion of short arm	false	Inferred relationship	Existential restriction modifier	2
Atypical Norrie disease due to monosomy Xp11.3	Associated morphology	Partial monosomy	false	Inferred relationship	Existential restriction modifier	3
Atypical Norrie disease due to monosomy Xp11.3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Atypical Norrie disease due to monosomy Xp11.3	Is a	Congenital anomaly of retina	true	Inferred relationship	Existential restriction modifier
Atypical Norrie disease due to monosomy Xp11.3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Atypical Norrie disease due to monosomy Xp11.3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Atypical Norrie disease due to monosomy Xp11.3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Atypical Norrie disease due to monosomy Xp11.3	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	3
Atypical Norrie disease due to monosomy Xp11.3	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Atypical Norrie disease due to monosomy Xp11.3	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Atypical Norrie disease due to monosomy Xp11.3	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Atypical Norrie disease due to monosomy Xp11.3	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Atypical Norrie disease due to monosomy Xp11.3	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3472826016	Atypical Norrie disease due to monosomy Xp11.3	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3472827013	Atypical Norrie disease due to Xp11.3 microdeletion	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module