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192781003: Leukodystrophy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
296959019 Leucodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
576600014 Leucodystrophy (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2470024014 Leukodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
2788789012 Leukodystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

48 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leukodystrophy Is a System disorder of the nervous system false Inferred relationship Existential restriction modifier
Leukodystrophy Finding site Structure of nervous system false Inferred relationship Existential restriction modifier 1
Leukodystrophy Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Leukodystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier 1
Leukodystrophy Associated morphology Myelin sheath alteration false Inferred relationship Existential restriction modifier 1
Leukodystrophy Is a Neurological lesion true Inferred relationship Existential restriction modifier
Leukodystrophy Is a Degenerative disorder false Inferred relationship Existential restriction modifier
Leukodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier 1
Leukodystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier 1
Leukodystrophy Finding site Structure of nervous system false Inferred relationship Existential restriction modifier 1
Leukodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier 1
Leukodystrophy Finding site White matter structure of brain and spinal cord true Inferred relationship Existential restriction modifier 2
Leukodystrophy Is a Neuropathy true Inferred relationship Existential restriction modifier
Leukodystrophy Is a Disorder of the central nervous system false Inferred relationship Existential restriction modifier
Leukodystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 2
Leukodystrophy Is a Degenerative disease of the central nervous system true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Leucodystrophy NOS Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Neuroaxonal leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Leucodystrophy without a known biochemical basis Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Globoid cell leukodystrophy, late-onset Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Dalmatian leukodystrophy Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Phytanic acid storage disease Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Adult onset autosomal dominant leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Ribonucleic acid polymerase III-related leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Progressive encephalopathy with severe infantile anorexia Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Cerebroretinal vasculopathy Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Odontoleukodystrophy Is a False Leukodystrophy Inferred relationship Existential restriction modifier
X-linked spastic paraplegia type 2 Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Dermatoleukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Tubulin beta 4A class IVa related leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Hypomyelination with brain stem and spinal cord involvement and leg spasticity Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Metachromatic leukodystrophy, adult type Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Alexander's disease Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Vanishing white matter disease Is a True Leukodystrophy Inferred relationship Existential restriction modifier
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Leukodystrophy Inferred relationship Existential restriction modifier
4H leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Leukodystrophy due to alkaline ceramidase 3 deficiency Is a True Leukodystrophy Inferred relationship Existential restriction modifier
Dementia due to leukodystrophy Due to True Leukodystrophy Inferred relationship Existential restriction modifier 3
Leucodystrophy NOS Is a False Leukodystrophy Inferred relationship Existential restriction modifier
Adult-onset autosomal dominant leucodystrophy Is a False Leukodystrophy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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