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\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\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\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\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\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\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\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\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\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\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\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\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\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\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\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 chromosomal disease\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\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\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\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\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\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\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Atypical Norrie disease due to monosomy Xp11.3
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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, Primitive. 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 Initial character case insensitive SNOMED CT core

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

3472827013 Atypical Norrie disease due to Xp11.3 microdeletion en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3472825017	Atypical Norrie disease due to monosomy Xp11.3 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3472826016	Atypical Norrie disease due to monosomy Xp11.3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3472827013	Atypical Norrie disease due to Xp11.3 microdeletion	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core