718714006: Deafness and hypogonadism syndrome (disorder)

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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...

\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)

\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deafness and hypogonadism syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\Deafness and hypogonadism syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (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\Deafness and hypogonadism syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Deafness and hypogonadism syndrome (disorder)
\Disease\Congenital disease\Congenital hearing disorder\Deafness and hypogonadism 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

3313157011 Deafness and hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313305019 Deafness and hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313309013 This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behavior. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3313310015 This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. 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
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	Congenital hearing disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	affection de l'oreille	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	hypogonadisme	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	oreille	false	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Deafness and hypogonadism syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Deafness and hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	1
Deafness and hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	oreille	true	Inferred relationship	Some	2

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
3313157011	Deafness and hypogonadism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313305019	Deafness and hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313309013	This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behavior. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313310015	This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core