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192781003: leukodystrofie (aandoening)

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

\Neurological lesion\Leucodystrophy

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

\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy
\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leucodystrophy	Is a	System disorder of the nervous system (disorder)	false	Inferred relationship	Some
Leucodystrophy	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Leucodystrophy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Leucodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Leucodystrophy	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Leucodystrophy	Is a	Neurological lesion	true	Inferred relationship	Some
Leucodystrophy	Is a	Degenerative disorder	false	Inferred relationship	Some
Leucodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Leucodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Leucodystrophy	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Leucodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Leucodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Leucodystrophy	Is a	Neuropathy (disorder)	true	Inferred relationship	Some
Leucodystrophy	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Leucodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Leucodystrophy	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leucodystrophy NOS	Is a	False	Leucodystrophy	Inferred relationship	Some
Galactosylceramide beta-galactosidase deficiency	Is a	True	Leucodystrophy	Inferred relationship	Some
Neuroaxonal leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Leucodystrophy without a known biochemical basis	Is a	False	Leucodystrophy	Inferred relationship	Some
Globoid cell leukodystrophy, late-onset	Is a	False	Leucodystrophy	Inferred relationship	Some
Dalmatian leukodystrophy	Is a	False	Leucodystrophy	Inferred relationship	Some
HSMN IV	Is a	True	Leucodystrophy	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Progressive encephalopathy with severe infantile anorexia (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Pelizaeus Merzbacher like disease (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Cerebroretinal vasculopathy	Is a	False	Leucodystrophy	Inferred relationship	Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
Odontoleukodystrophy (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
Dermatoleukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
TUBB4A-related leukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	False	Leucodystrophy	Inferred relationship	Some
Pelizaeus-Merzbacher disease (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Alexander disease	Is a	True	Leucodystrophy	Inferred relationship	Some
Vanishing white matter disease (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 4	Is a	True	Leucodystrophy	Inferred relationship	Some
4H leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Dementia due to leukodystrophy	Due to	True	Leucodystrophy	Inferred relationship	Some	3
Aicardi Goutieres syndrome	Is a	True	Leucodystrophy	Inferred relationship	Some
Adrenoleukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Cholestanol storage disease	Is a	True	Leucodystrophy	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	True	Leucodystrophy	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 5 (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Leucodystrophy	Inferred relationship	Some
Hypomyelination of early myelinating structures (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
296959019	Leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
576600014	Leucodystrophy (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2470024014	Leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2788789012	Leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
367561000146113	leukodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
367571000146119	leukodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)