724283004: Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Finding of head region\Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disorder of head\Encephalopathy\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \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\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \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\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3433638013	Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3433639017	Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	en	Synonym	Active	Case insensitive	SNOMED CT core
3433640015	Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum	en	Synonym	Active	Case insensitive	SNOMED CT core
3433641016	H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum	en	Synonym	Active	Case sensitive	SNOMED CT core
3433642011	Hypomyelination with atrophy of basal ganglia and cerebellum syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3433643018	Syndrome with characteristics of slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. So far, around 20 cases have been reported in the literature. The syndrome affects both males and females and onset occurs in infancy or early childhood. Caused by mutation in the TUBB4A gene on chromosome 19p13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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