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\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\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 (body structure)\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 (body structure)\Central nervous system part\Brain and spinal cord structure (body structure)\White matter structure of brain and spinal cord (body structure)
\Body system structure\Structure of nervous system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)\Central nervous tissue\White matter structure of brain and spinal cord (body structure)
\Body system structure\Structure of nervous system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)\Central nervous system part\Brain and spinal cord structure (body structure)\White matter structure of brain and spinal cord (body structure)
\Body system structure\Structure of nervous system (body structure)\Structure of nervous tissue (body structure)\Central nervous tissue\White matter structure of brain and spinal cord (body structure)

\Body tissue structure (body structure)\Structure of nervous tissue (body structure)\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:

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

3934831000005111 struktur af hvid substans af hjerne og rygmarv da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	Some
White matter structure of brain and spinal cord (body structure)	del af	Entire brain and spinal cord (body structure)	false	Additional relationship	Some
White matter structure of brain and spinal cord (body structure)	Is a	Central nervous tissue	true	Inferred relationship	Some

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	Some
Structure of basilar white matter of pons	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Spinal cord white matter structure	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Cerebellar white matter structure	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
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	Some
Cerebral white matter structure	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Leukodystrofi uden kendt biokemisk grundlag	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	3
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
HSMN IV	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	4
Leucodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Galactosylceramide beta-galactosidase deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Adult onset autosomal dominant leukodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
RNA polymerase III-related leukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	2
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
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.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Cerebroretinal vasculopathy	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Globoid cell leukodystrophy, late-onset	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	1
Neuroaxonal leukodystrophy (disorder)	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Metachromatic leukodystrophy, adult type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Alexander disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Type III transitional Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Type V atypical Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Type IV adult Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Type VI Cockayne Pelizaeus-Merzbacher disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	1
A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	1
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Structure of stratum opticum of corpora quadrigemina	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Alexander disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	1
Pelizaeus Merzbacher like disease due to HSPD1 mutation	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	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	Some	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	Some	1
Structure of central tegmental tract	Is a	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Pelizaeus-Merzbacher disease null syndrome	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease in female carrier	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	2
A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Alexander disease juvenile form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Alexander disease juvenile form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	4
Alexander disease type I (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Alexander disease type I (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	4
Alexander disease adult form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Alexander disease adult form	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Aicardi Goutieres syndrome	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 1	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 2	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 3	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 4 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 5 (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Adrenoleukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Neonatal adrenoleukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Adolescent X-linked adrenoleukodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Childhood cerebral X-linked adrenoleukodystrophy	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Sphingolipid activator protein 1 deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Cholestanol storage disease	Finding site	False	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Spongy degeneration of central nervous system	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Metachromatic leukodystrophy without arylsulfatase deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Metachromatic leukodystrophy, congenital type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	3
Metachromatic leukodystrophy, juvenile type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Metachromatic leukodystrophy, late infantile type	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
Arylsulfatase A deficiency	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	2
Metachromatic leucodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	3
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	5
Adrenomyeloneuropathy (disorder)	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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	Some	2
Structure of white matter of brain	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Central nervous system tract structure	Is a	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some
Cholestanol storage disease	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
A rare genetic neurological disorder with characteristics of hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	2
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	Finding site	True	White matter structure of brain and spinal cord (body structure)	Inferred relationship	Some	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
3934831000005111	struktur af hvid substans af hjerne og rygmarv	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)