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

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\Leukodystrophy\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)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\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)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\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)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (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 degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \affection cérébelleuse\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)\atrophie cérébrale\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)
• \affection de la tête\Disorder of brain (disorder)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \affection cérébelleuse\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)\atrophie cérébrale\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\maladie héréditaire\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\maladie héréditaire\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\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Leukodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leukodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (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\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\TUBB4A-related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
• \Disease\affection de la tête\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

Expanded Value Set

This concept is not in any reference sets

Back to Start