718914002: déficience intellectuelle liée à l'X type Van Esch (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Van Esch type (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\X-linked intellectual disability Van Esch type (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Primary hypogonadism (disorder)\X-linked intellectual disability Van Esch type (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability Van Esch type (disorder)
\Disease\Congenital disease\X-linked intellectual disability Van Esch type (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability Van Esch type (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\X-linked intellectual disability Van Esch type (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

3314402011 X-linked intellectual disability Van Esch type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3314403018 X-linked intellectual disability Van Esch type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

753341000241118 déficience intellectuelle liée à l'X type Van Esch (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

877981000172111 déficience intellectuelle liée à l'X type Van Esch fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3314404012 X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability Van Esch type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Primary hypogonadism (disorder)	true	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
X-linked intellectual disability Van Esch type (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	1
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314402011	X-linked intellectual disability Van Esch type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314403018	X-linked intellectual disability Van Esch type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753341000241118	déficience intellectuelle liée à l'X type Van Esch (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877981000172111	déficience intellectuelle liée à l'X type Van Esch	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314404012	X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core