719808002: Chromosome Xp11.3 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)

\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\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\Retinitis pigmentosa\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Chromosome Xp11.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Chromosome Xp11.3 microdeletion syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3317982011 Chromosome Xp11.3 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3317983018 Chromosome Xp11.3 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3317984012 Aldred syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3317985013 This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3934371000052113 kromosom Xp11.3-mikrodeletionssyndromet sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	Deletion of part of autosome	false	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	3
Chromosome Xp11.3 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	3
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	X-linked retinitis pigmentosa	true	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	3
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Chromosome Xp11.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3317982011	Chromosome Xp11.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317983018	Chromosome Xp11.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317984012	Aldred syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317985013	This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3934371000052113	kromosom Xp11.3-mikrodeletionssyndromet	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)