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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
2113441000052113 leukodystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

39 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leucodystrophy Is a System disorder of the nervous system (disorder) false Inferred relationship Some
Leucodystrophy Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
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 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 (body structure) false Inferred relationship Some 1
Leucodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Some 1
Leucodystrophy Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2
Leucodystrophy Is a Neuropathy (disorder) true Inferred relationship Some
Leucodystrophy Is a Disorder of the central nervous system (disorder) false Inferred relationship Some
Leucodystrophy Associated morphology Dystrophy true Inferred relationship Some 2
Leucodystrophy Is a Degenerative disease of the central nervous system true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Leucodystrophy NOS Is a False Leucodystrophy Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency Is a True Leucodystrophy Inferred relationship Some
Neuroaxonal leukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Some
leukodystrofi utan känd biokemisk grund Is a False Leucodystrophy Inferred relationship Some
Globoid cell leukodystrophy, late-onset Is a False Leucodystrophy Inferred relationship Some
Dalmatian leukodystrophy Is a False Leucodystrophy Inferred relationship Some
HSMN IV Is a True Leucodystrophy Inferred relationship Some
Adult onset autosomal dominant leukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Some
RNA polymerase III-related leukodystrophy Is a True Leucodystrophy Inferred relationship Some
Progressive encephalopathy with severe infantile anorexia (disorder) Is a True Leucodystrophy Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) Is a True Leucodystrophy Inferred relationship Some
cerebroretinal vaskulopati Is a False Leucodystrophy Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a True Leucodystrophy Inferred relationship Some
Odontoleukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Some
X-linked spastic paraplegia type 2 (disorder) Is a True Leucodystrophy Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a False Leucodystrophy Inferred relationship Some
Dermatoleukodystrophy Is a True Leucodystrophy Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a True Leucodystrophy Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Leucodystrophy Inferred relationship Some
TUBB4A-related leukodystrophy Is a True Leucodystrophy Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a True Leucodystrophy Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Leucodystrophy Inferred relationship Some
Metachromatic leukodystrophy, adult type Is a True Leucodystrophy Inferred relationship Some
Pelizaeus-Merzbacher disease (disorder) Is a True Leucodystrophy Inferred relationship Some
Alexander's disease Is a True Leucodystrophy Inferred relationship Some
Vanishing white matter disease (disorder) Is a True Leucodystrophy Inferred relationship Some
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Leucodystrophy Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy Is a True Leucodystrophy Inferred relationship Some

This concept is not in any reference sets

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