715984007: Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Boucher Neuhäuser 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\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Boucher Neuhäuser syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Boucher Neuhäuser 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\Boucher Neuhäuser 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\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Chronic disease of genitourinary system\Boucher Neuhäuser 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\Boucher Neuhäuser 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\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Boucher Neuhäuser syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Boucher Neuhäuser syndrome
• \Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Disorder of head\Encephalopathy\Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Boucher Neuhäuser syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Boucher Neuhäuser syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Boucher Neuhäuser syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Boucher Neuhäuser syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Chronic disease of genitourinary system\Boucher Neuhäuser syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Boucher Neuhäuser 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\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Chronic disease of genitourinary system\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
• \Disease\Chronic disease\Chronic disease of genitourinary system\Boucher Neuhäuser syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Boucher Neuhäuser syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304320011	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304321010	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3307451011	Boucher Neuhäuser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304323013	A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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