718714006: Deafness and hypogonadism syndrome (disorder)

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Deafness and hypogonadism syndrome (disorder)

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\fynd som rör öra och hörsel\Ear finding\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\...

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deafness and hypogonadism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Deafness and hypogonadism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Deafness and hypogonadism syndrome (disorder)
\Disease\Congenital disease (disorder)\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

3923521000052119 syndrom med dövhet och hypogonadism sv Synonym (core metadata concept) Active Entire term 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
Deafness and hypogonadism syndrome (disorder)	Is a	Hypogonadism	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness and hypogonadism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness and hypogonadism syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Deafness and hypogonadism syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	2
Deafness and hypogonadism syndrome (disorder)	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	Disorder of ear	true	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Deafness and hypogonadism 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
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
3923521000052119	syndrom med dövhet och hypogonadism	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)