FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

192781003: Leukodystrophy (disorder)

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

Descriptions:

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
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
296959019 Leucodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2470024014 Leukodystrophy en Synonym (core metadata concept) Active 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 Only initial character 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
3387471001000115 Leukodystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
77171000077118 leucodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
77171000077118 leucodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387471001000115 Leukodystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

73 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leucodystrophy Is a System disorders of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Associated morphology Myelin sheath alteration false Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Is a Neurological lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Is a Degenerative disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Leucodystrophy Is a Neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Is a Disorder of the central nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Leucodystrophy Is a Degenerative disease of the central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Leucodystrophy NOS Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Galactosylceramide beta-galactosidase deficiency Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Neuroaxonal leukodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy without a known biochemical basis Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder) Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Dalmatian leukodystrophy Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Adult onset autosomal dominant leukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Ribonucleic acid polymerase III-related leukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
RAVINE syndrome Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus Merzbacher like disease (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroretinal vasculopathy Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spastic paraplegia type 2 (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoleukodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leucodystrophy, adult type Is a False Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Alexander's disease Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
4H leucodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Dementia due to leucodystrophy Due to True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept) 3
Aicardi Goutieres syndrome (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Cholestanol storage disease Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Spongy degeneration of central nervous system (disorder) Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination of early myelinating structures Is a True Leucodystrophy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start