719160009: déficience intellectuelle liée à l'X syndromique type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Obesity (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (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\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\Congenital disease\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Syndromic X-linked intellectual disability type 7 (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Syndromic X-linked intellectual disability type 7 (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

1011631000172116 déficience intellectuelle liée à l'X type Ahmad fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3315205019 Syndromic X-linked intellectual disability type 7 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315207010 Syndromic X-linked intellectual disability type 7 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315208017 X-linked intellectual disability Ahmad type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

753631000241118 déficience intellectuelle liée à l'X syndromique type 7 (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

909821000172111 déficience intellectuelle liée à l'X syndromique type 7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3315209013 This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. 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
Syndromic X-linked intellectual disability type 7 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Syndromic X-linked intellectual disability type 7 (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	3
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	hypogonadisme	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Obesity (disorder)	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est défini par la manifestation de (attribut)	Obese (finding)	false	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 7 (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	interprète (attribut)	mesure du poids corporel	true	Inferred relationship	Some	3

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
1011631000172116	déficience intellectuelle liée à l'X type Ahmad	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315205019	Syndromic X-linked intellectual disability type 7 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315207010	Syndromic X-linked intellectual disability type 7	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315208017	X-linked intellectual disability Ahmad type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753631000241118	déficience intellectuelle liée à l'X syndromique type 7 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
909821000172111	déficience intellectuelle liée à l'X syndromique type 7	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315209013	This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core