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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Neurological lesion\Leucodystrophy\A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Finding of coordination\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\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\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 of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\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\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\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 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\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (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\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\A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.\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 (disorder)\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)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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\Degenerative disease of the central nervous system\Leucodystrophy\A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.\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 (disorder)\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 (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\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\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease 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\Disease 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 (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of body system\Disease 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\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\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\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
5403304014	A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403305010	A rare disorder characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5403304014	A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403305010	A rare disorder characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448491001000119	Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6296071000241116	hypomyélinisation avec atrophie des noyaux gris centraux et du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6296081000241119	H-ABC - hypomyélinisation avec atrophie des ganglions de la base et du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6296091000241117	leucodystrophie hypomyélinisante avec atrophie des noyaux gris centraux et du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6296071000241116	hypomyélinisation avec atrophie des noyaux gris centraux et du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6296081000241119	H-ABC - hypomyélinisation avec atrophie des ganglions de la base et du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6296091000241117	leucodystrophie hypomyélinisante avec atrophie des noyaux gris centraux et du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448491001000119	Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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