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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Leucodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Disorder of brain (disorder)\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \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 leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Degenerative disorder\Atrophy (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \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 leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (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 degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (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\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433639017	Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433640015	Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433641016	H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433642011	Hypomyelination with atrophy of basal ganglia and cerebellum syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3984661000052116	hypomyeliniserande leukodystrofi med atrofi av basala ganglier och lillhjärna	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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