715984007: Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome

\Finding of coordination\Ataxia\...

\Hereditary ataxia (disorder)\Boucher Neuhäuser syndrome

\Cerebellar ataxia\Boucher Neuhäuser syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome

\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Boucher Neuhäuser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Boucher Neuhäuser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Boucher Neuhäuser syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Boucher Neuhäuser syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Chronic disease of genitourinary system (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Boucher Neuhäuser syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome
\Disease\Chronic disease\Chronic disease of genitourinary system (disorder)\Boucher Neuhäuser syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Boucher Neuhäuser syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3304321010 Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307451011 Boucher Neuhäuser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401182011 A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401183018 A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterised by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304320011 Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3304320011 Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304321010 Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3304321010 Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3307451011 Boucher Neuhäuser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5401182011 A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401183018 A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterised by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

601081000274111 Boucher-Neuhäuser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429501001000115 Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5756311000241113 syndrome d'ataxie cérébelleuse avec hypogonadisme et dystrophie choroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5756311000241113 syndrome d'ataxie cérébelleuse avec hypogonadisme et dystrophie choroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

601081000274111 Boucher-Neuhäuser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429501001000115 Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Boucher Neuhäuser syndrome	Is a	Hypogonadism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Hereditary choroidal dystrophy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Reproductive system hereditary disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Boucher Neuhäuser syndrome	Finding site	Choroidal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Boucher Neuhäuser syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Boucher Neuhäuser syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Boucher Neuhäuser syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Boucher Neuhäuser syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Boucher Neuhäuser syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Boucher Neuhäuser syndrome	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Boucher Neuhäuser syndrome	Finding site	Choroidal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Boucher Neuhäuser syndrome	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Boucher Neuhäuser syndrome	Is a	Hypogonadotropic hypogonadism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Chronic brain syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	Chronic disease of genitourinary system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Boucher Neuhäuser syndrome	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Boucher Neuhäuser syndrome	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Boucher Neuhäuser syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304320011	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304321010	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307451011	Boucher Neuhäuser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401182011	A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401183018	A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterised by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304320011	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304320011	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304321010	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304321010	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307451011	Boucher Neuhäuser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401182011	A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401183018	A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterised by 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). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
601081000274111	Boucher-Neuhäuser-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429501001000115	Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5756311000241113	syndrome d'ataxie cérébelleuse avec hypogonadisme et dystrophie choroïdienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5756311000241113	syndrome d'ataxie cérébelleuse avec hypogonadisme et dystrophie choroïdienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
601081000274111	Boucher-Neuhäuser-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429501001000115	Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module