764095005: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Neurological lesion\Leucodystrophy\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

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

\Finding of brain\Encephalopathy\...

\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...

\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disturbance of tooth eruption or exfoliation\Tooth eruption disorder\Late tooth eruption\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Developmental disorder\Disorder of tooth development\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\4H leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3646023013 Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3646024019 Ataxia, delayed dentition, hypomyelination syndrome en Synonym Active Case insensitive SNOMED CT core

3646025018 Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome en Synonym Active Case insensitive SNOMED CT core

3646026017 Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	4H leucodystrophy	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Tooth malformation	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Late tooth eruption	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	5
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Some	6
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Associated morphology	Maturation deceleration	true	Inferred relationship	Some	4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Congenital disease	false	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Leucodystrophy	false	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Cerebral atrophy	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
3646023013	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3646024019	Ataxia, delayed dentition, hypomyelination syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3646025018	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3646026017	Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.	en	Definition	Active	Case sensitive	SNOMED CT core