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

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\maladie chronique de l'appareil génito-urinaire\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\maladie chronique de l'appareil génito-urinaire\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\maladie chronique de l'appareil génito-urinaire\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)

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\...

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

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

\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...

\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\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)\affection dégénérative de l'œil\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\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\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\constatation à propos d'un globe oculaire\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\constatation à propos d'un globe oculaire\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\constatation à propos d'un globe oculaire\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\constatation à propos d'un globe oculaire\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\constatation à propos d'un globe oculaire\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\affection de la tête\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)
\affection de la tête\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)
\affection de la tête\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)
\affection de la tête\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)
\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\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)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\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)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\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)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\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)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Choroid finding\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\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)
\constatation à propos des yeux ou de la vue\affection du système visuel\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)
\constatation à propos des yeux ou de la vue\affection du système visuel\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)
\constatation à propos des yeux ou de la vue\affection du système visuel\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)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\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\affection d'un système corporel\affection du système visuel\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\affection d'un système corporel\affection du système visuel\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\affection d'un système corporel\affection du système visuel\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\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\maladie chronique de l'appareil génito-urinaire\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\maladie chronique de l'appareil génito-urinaire\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection de la tête\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\affection de la tête\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\affection de la tête\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\affection de la tête\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\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil génito-urinaire\Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
\Disease\maladie chronique\trouble neurologique chronique\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	hypogonadisme hypogonadotrope (trouble)	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Chronic brain syndrome	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	maladie chronique de l'appareil génito-urinaire	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	true	Inferred relationship	Some	3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	4
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	5
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	hypogonadisme	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary choroidal dystrophy	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Cerebellar ataxia	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure de la choroïde	false	Inferred relationship	Some	3
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	false	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	4
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure de la choroïde	true	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary ataxia (disorder)	true	Inferred relationship	Some

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