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192781003: Leukodystrophy (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2470024014 Leukodystrophy en Synonym Active Case insensitive SNOMED CT core
2788789012 Leukodystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
296959019 Leucodystrophy en Synonym Active Case insensitive SNOMED CT core

48 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leucodystrophy Is a Degenerative disease of the central nervous system true Inferred relationship Some
Leucodystrophy Is a Hereditary disorder of nervous system false Inferred relationship Some
Leucodystrophy Associated morphology Dystrophy false Inferred relationship Some 1
Leucodystrophy Associated morphology Myelin sheath alteration false Inferred relationship Some 1
Leucodystrophy Is a Neurological lesion true Inferred relationship Some
Leucodystrophy Is a Degenerative disorder false Inferred relationship Some
Leucodystrophy Is a System disorder of the nervous system false Inferred relationship Some
Leucodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Some 1
Leucodystrophy Associated morphology Dystrophy false Inferred relationship Some 1
Leucodystrophy Finding site Structure of nervous system false Inferred relationship Some 1
Leucodystrophy Finding site Myelinated nerve fibre structure true Inferred relationship Some 1
Leucodystrophy Finding site White matter structure of brain and spinal cord true Inferred relationship Some 2
Leucodystrophy Is a Neuropathy true Inferred relationship Some
Leucodystrophy Is a Disorder of the central nervous system false Inferred relationship Some
Leucodystrophy Associated morphology Dystrophy true Inferred relationship Some 2
Leucodystrophy Finding site Structure of nervous system false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypomyelination with brain stem and spinal cord involvement and leg spasticity Is a True Leucodystrophy Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Leucodystrophy Inferred relationship Some
Metachromatic leucodystrophy, adult type Is a True Leucodystrophy Inferred relationship Some
Pelizaeus-Merzbacher disease Is a True Leucodystrophy Inferred relationship Some
Alexander's disease Is a True Leucodystrophy Inferred relationship Some
Vanishing white matter disease Is a True Leucodystrophy Inferred relationship Some
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a True Leucodystrophy Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Leucodystrophy Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Leucodystrophy Inferred relationship Some
4H leucodystrophy Is a True Leucodystrophy Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Leucodystrophy Inferred relationship Some
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Is a True Leucodystrophy Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Leucodystrophy Inferred relationship Some
Alkaline ceramidase 3 deficiency Is a True Leucodystrophy Inferred relationship Some
Dementia due to leucodystrophy Due to True Leucodystrophy Inferred relationship Some 3
Galactosylceramide beta-galactosidase deficiency Is a True Leucodystrophy Inferred relationship Some
Neuroaxonal leucodystrophy Is a True Leucodystrophy Inferred relationship Some
Leucodystrophy without a known biochemical basis Is a False Leucodystrophy Inferred relationship Some
Globoid cell leucodystrophy, late-onset Is a False Leucodystrophy Inferred relationship Some
Dalmatian leukodystrophy Is a False Leucodystrophy Inferred relationship Some
Phytanic acid storage disease Is a True Leucodystrophy Inferred relationship Some
Leucodystrophy NOS Is a False Leucodystrophy Inferred relationship Some
Adult onset autosomal dominant leucodystrophy Is a True Leucodystrophy Inferred relationship Some
RNA polymerase III-related leukodystrophy Is a True Leucodystrophy Inferred relationship Some
RAVINE syndrome Is a True Leucodystrophy Inferred relationship Some
Pelizaeus Merzbacher like disease Is a True Leucodystrophy Inferred relationship Some
Cerebroretinal vasculopathy Is a False Leucodystrophy Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Leucodystrophy Inferred relationship Some
Odontoleukodystrophy Is a False Leucodystrophy Inferred relationship Some
Spastic paraplegia type 2 Is a True Leucodystrophy Inferred relationship Some
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Is a False Leucodystrophy Inferred relationship Some
Dermatoleukodystrophy Is a True Leucodystrophy Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Leucodystrophy Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Leucodystrophy Inferred relationship Some
Tubulin beta 4A class IVa related leukodystrophy Is a True Leucodystrophy Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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