54115001: Myelinated nerve fiber structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Body organ structure\Organ part\Nerve part\Nerve fiber\Myelinated nerve fiber structure

\Body system structure\Structure of nervous system (body structure)\Nerve structure\Nerve part\Nerve fiber\Myelinated nerve fiber structure

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
Myelinated nerve fiber structure	Is a	Nerve fiber	true	Inferred relationship	Some
Myelinated nerve fiber structure	del av	Entire central nervous system tract	false	Additional relationship	Some
Myelinated nerve fiber structure	del av	Entire nerve root	false	Additional relationship	Some
Myelinated nerve fiber structure	del av	Entire spinal nerve	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
myeliniserade retinala nervtrådar	Is a	False	Myelinated nerve fiber structure	Inferred relationship	Some
Entire myelinated nerve fibre	Is a	True	Myelinated nerve fiber structure	Inferred relationship	Some
Myelin sheath structure	Is a	True	Myelinated nerve fiber structure	Inferred relationship	Some
leukodystrofi utan känd biokemisk grund	Finding site	False	Myelinated nerve fiber structure	Inferred relationship	Some	1
Odontoleukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
HSMN IV	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Leucodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Galactosylceramide beta-galactosidase deficiency	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
RNA polymerase III-related leukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Progressive encephalopathy with severe infantile anorexia (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
TUBB4A-related leukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Pelizaeus Merzbacher like disease (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
cerebroretinal vaskulopati	Finding site	False	Myelinated nerve fiber structure	Inferred relationship	Some	1
Globoid cell leukodystrophy, late-onset	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Dermatoleukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Neuroaxonal leukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Metachromatic leukodystrophy, adult type	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Alexander's disease	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	3
Pelizaeus-Merzbacher disease (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Type III transitional Pelizaeus-Merzbacher disease	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Type V atypical Pelizaeus-Merzbacher disease	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Type IV adult Pelizaeus-Merzbacher disease	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Type VI Cockayne Pelizaeus-Merzbacher disease	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	3
X-linked spastic paraplegia type 2 (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	3
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Pelizaeus Merzbacher like disease due to HSPD1 mutation	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease null syndrome	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease in female carrier	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Vanishing white matter disease (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Ovarioleukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
VPS11-related autosomal recessive hypomyelinating leukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Multiple mitochondrial dysfunctions syndrome type 4	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
4H leukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
RARS-related autosomal recessive hypomyelinating leucodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Alexander disease juvenile form (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Alexander disease infantile form (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Alexander disease adult form (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Aicardi Goutieres syndrome	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 1	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 2	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 3	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 4 (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 5 (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Adrenoleukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Neonatal adrenoleukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Adolescent X-linked adrenoleukodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Childhood cerebral X-linked adrenoleukodystrophy	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Sphingolipid activator protein 1 deficiency	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Cholestanol storage disease	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Spongy degeneration of central nervous system	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	3
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Metachromatic leukodystrophy, congenital type	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Metachromatic leucodystrophy, juvenile type	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Metachromatic leukodystrophy, late infantile type	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Arylsulfatase A deficiency	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Metachromatic leucodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	2
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	4
Adrenomyeloneuropathy (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1
Multiple mitochondrial dysfunctions syndrome type 5 (disorder)	Finding site	True	Myelinated nerve fiber structure	Inferred relationship	Some	1

Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
89943019	Myelinated nerve fiber	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
89944013	Myelinated nerve fiber, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496867014	Myelinated nerve fiber structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496868016	Myelinated nerve fibre structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496869012	Myelinated nerve fibre	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
792311017	Myelinated nerve fiber structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
739831000052115	myeliniserad nervtråd, struktur	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)