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

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leukodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\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
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\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
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leukodystrophy 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 leukodystrophy 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 leukodystrophy 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 leukodystrophy with atrophy of basal ganglia and cerebellum

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Finding of head region\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Disorder of head\Disorder of brain\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Hypomyelinating leukodystrophy 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 leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leukodystrophy 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 leukodystrophy 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 leukodystrophy 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 leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Hypomyelinating leukodystrophy 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 leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous 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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Tubulin beta 4A class IVa related leukodystrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of head\Disorder of brain\Disorder of basal ganglia\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

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 SNOMED CT core module

3433639017 Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum en Synonym Active Entire term case insensitive SNOMED CT core module

3433640015 Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum en Synonym Active Entire term case insensitive SNOMED CT core module

3433641016 H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum en Synonym Active Entire term case sensitive SNOMED CT core module

3433642011 Hypomyelination with atrophy of basal ganglia and cerebellum syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Disorder of basal ganglia	true	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Leukodystrophy	false	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Cerebellar disorder	false	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Cerebral atrophy	true	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	5
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Cerebellar structure	false	Inferred relationship	Existential restriction modifier	5
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	7
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Basal ganglion structure	false	Inferred relationship	Existential restriction modifier	7
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Hypomyelination	false	Inferred relationship	Existential restriction modifier	4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier	6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Existential restriction modifier	4
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Tubulin beta 4A class IVa related leukodystrophy	true	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	3
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	3
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Basal ganglion structure	true	Inferred relationship	Existential restriction modifier	1
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier	2
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier	2
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	SNOMED CT core module
3433639017	Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3433640015	Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3433641016	H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3433642011	Hypomyelination with atrophy of basal ganglia and cerebellum syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module