718714006: Deafness and hypogonadism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\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\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\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\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Finding of trunk structure (finding)\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\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Ear finding\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Functional finding\Hearing finding\Hearing disorder\...
• \Congenital hearing disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Hearing loss\Hearing loss associated with syndrome\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease (disorder)\X-linked recessive hereditary disease\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Ear, nose and throat disorder\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \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\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \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\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.
• \Disease\Disorder of head (disorder)\Disorder of ear\A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.

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
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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401825013	A rare form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401826014	A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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