718714006: Deafness and hypogonadism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness and hypogonadism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Deafness and hypogonadism syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Deafness and hypogonadism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Deafness and hypogonadism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Deafness and hypogonadism syndrome

\Hearing loss\Hearing loss associated with syndrome\Deafness and hypogonadism syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3313305019 Deafness and hypogonadism syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness and hypogonadism syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Deafness and hypogonadism syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	Hypogonadism	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Deafness and hypogonadism syndrome	Finding site	Ear structure	false	Inferred relationship	Some
Deafness and hypogonadism syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Deafness and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness and hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness and hypogonadism syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Deafness and hypogonadism syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313157011	Deafness and hypogonadism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313305019	Deafness and hypogonadism syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core