448054001: autosomaal dominante leukodystrofie beginnend op volwassen leeftijd (aandoening)

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

\Neurological lesion\Leucodystrophy\Adult onset autosomal dominant leukodystrophy (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Adult onset autosomal dominant leukodystrophy (disorder)

\Hereditary degenerative disease of central nervous system\Adult onset autosomal dominant leukodystrophy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adult onset autosomal dominant leukodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Adult onset autosomal dominant leukodystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Adult onset autosomal dominant leukodystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Adult onset autosomal dominant leukodystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adult onset autosomal dominant leukodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Adult onset autosomal dominant leukodystrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adult onset autosomal dominant leukodystrophy (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\Adult onset autosomal dominant leukodystrophy (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\Adult onset autosomal dominant leukodystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	Leucodystrophy	true	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Occurrence	Adulthood	false	Inferred relationship	Some	3
Adult onset autosomal dominant leukodystrophy (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Adult onset autosomal dominant leukodystrophy (disorder)	Occurrence	Adulthood	true	Inferred relationship	Some	2
Adult onset autosomal dominant leukodystrophy (disorder)	Occurrence	Adulthood	true	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metachromatic leukodystrophy, adult type	Is a	False	Adult onset autosomal dominant leukodystrophy (disorder)	Inferred relationship	Some
volwassen vorm van ziekte van Alexander (aandoening)	Is a	False	Adult onset autosomal dominant leukodystrophy (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2898387014	Adult onset autosomal dominant leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2899695010	Adult onset autosomal dominant leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2899696011	Adult onset autosomal dominant leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6826041000146112	ADLD op volwassen leeftijd	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7197981000146116	autosomaal dominante leukodystrofie beginnend op volwassen leeftijd (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7197991000146119	autosomaal dominante leukodystrofie beginnend op volwassen leeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)