764095005: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Neurological lesion\Leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (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\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (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\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Degenerative disorder\Atrophy (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (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\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (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\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (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\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (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\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
\Disease\Congenital disease (disorder)\Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3646023013 Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3646024019 Ataxia, delayed dentition, hypomyelination syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3646025018 Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3646026017 Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4131561000052112 syndrom med leukencefalopati, ataxi, hypodonti och hypomyelinisering 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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Leucodystrophy	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Cerebral atrophy	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3646023013	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3646024019	Ataxia, delayed dentition, hypomyelination syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3646025018	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3646026017	Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4131561000052112	syndrom med leukencefalopati, ataxi, hypodonti och hypomyelinisering	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)