389080008: White matter structure of brain and spinal cord (body structure)

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

\Body organ structure\Brain and spinal cord structure (body structure)\White matter structure of brain and spinal cord (body structure)

\Body system structure\Structure of subdivision of organ system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system\Central nervous tissue\White matter structure of brain and spinal cord (body structure)
\Body system structure\Structure of subdivision of organ system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system\Central nervous system part\Brain and spinal cord structure (body structure)\White matter structure of brain and spinal cord (body structure)
\Body system structure\Nervous system structure (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system\Central nervous tissue\White matter structure of brain and spinal cord (body structure)
\Body system structure\Nervous system structure (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system\Central nervous system part\Brain and spinal cord structure (body structure)\White matter structure of brain and spinal cord (body structure)
\Body system structure\Nervous system structure (body structure)\Structure of nervous tissue\Central nervous tissue\White matter structure of brain and spinal cord (body structure)

\Body tissue structure\Structure of nervous tissue\Central nervous tissue\White matter structure of brain and spinal cord (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
White matter structure of brain and spinal cord (body structure)	Is a	Brain and spinal cord structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
White matter structure of brain and spinal cord (body structure)	partie de	Entire brain and spinal cord (body structure)	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)
White matter structure of brain and spinal cord (body structure)	Is a	Central nervous tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cerebral hemisphere white matter part	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Structure of basilar white matter of pons	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal cord white matter structure (body structure)	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar white matter structure	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Entire white matter of brain and spinal cord (body structure)	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral white matter structure	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Leucodystrophy without a known biochemical basis	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked spastic paraplegia type 2 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Phytanic acid storage disease (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Leucodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Galactosylceramide beta-galactosidase deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Adult onset autosomal dominant leukodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ribonucleic acid polymerase III-related leukodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
RAVINE syndrome	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus Merzbacher like disease (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cerebroretinal vasculopathy	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Globoid cell leukodystrophy, late-onset (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dermatoleukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neuroaxonal leukodystrophy	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Metachromatic leucodystrophy, adult type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander's disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type III transitional Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, classic form	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, connatal variant	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type V atypical Pelizaeus-Merzbacher disease (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type IV adult Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type VI Cockayne Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Muscle eye brain disease with bilateral multicystic leukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Galactocerebroside beta-galactosidase deficiency - early onset (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Structure of stratum opticum of corpora quadrigemina	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alexander's disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus Merzbacher like disease due to HSPD1 mutation	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Structure of central tegmental tract	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease in female carrier	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
VPS11-related autosomal recessive hypomyelinating leucodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple mitochondrial dysfunctions syndrome type 4 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
4H leucodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander disease juvenile form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander disease juvenile form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alexander disease type I (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander disease type I (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alexander disease adult form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander disease adult form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Aicardi Goutieres syndrome (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Aicardi Goutieres syndrome type 1 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Aicardi Goutieres syndrome type 2 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Aicardi Goutieres syndrome type 3 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Aicardi Goutieres syndrome type 4	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Aicardi Goutieres syndrome type 5 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Adrenoleukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal adrenoleucodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Adolescent X-linked adrenoleukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Childhood cerebral X-linked adrenoleukodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Sphingolipid activator protein 1 deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cholestanol storage disease	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Spongy degeneration of central nervous system (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy, congenital type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Metachromatic leucodystrophy, juvenile type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy, late infantile type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arylsulfatase A deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Adrenomyeloneuropathy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Structure of white matter of brain	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Central nervous system tract structure	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholestanol storage disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypomyelination of early myelinating structures	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander disease type II	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alexander disease type II	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
1463259017	White matter structure of brain and spinal cord (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1483138014	White matter structure of brain and spinal cord	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1463259017	White matter structure of brain and spinal cord (body structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1463259017	White matter structure of brain and spinal cord (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1483138014	White matter structure of brain and spinal cord	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1483138014	White matter structure of brain and spinal cord	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core