715984007: Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy 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)\Chronic disease of genitourinary system\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Chronic disease of genitourinary system\Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Cerebellar ataxia with hypogonadism and choroidal dystrophy 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\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Chronic disease of genitourinary system\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

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

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

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

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

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

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

9995131000172112 syndrome d'ataxie cérébelleuse avec hypogonadisme et dystrophie choroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4913011000172119 syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4913021000172112 syndroom van cerebellaire ataxie, hypogonadisme en dystrofie van choroidea nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Hypogonadism	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Hereditary choroidal dystrophy	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Choroidal structure	false	Inferred relationship	Some	3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	4
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Choroidal structure	true	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Hypogonadotropic hypogonadism	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Is a	Chronic disease of genitourinary system	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	4
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	5

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
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
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
9995131000172112	syndrome d'ataxie cérébelleuse avec hypogonadisme et dystrophie choroïdienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4913011000172119	syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4913021000172112	syndroom van cerebellaire ataxie, hypogonadisme en dystrofie van choroidea	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)