41142009: Globoid cell leukodystrophy, late-onset (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Neurological lesion\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)

\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Globoid cell leukodystrophy, late-onset (disorder)	Is a	Inherited metabolic disorder of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Is a	Sphingolipidosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Is a	Leukodystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Globoid cell leukodystrophy, late-onset (disorder)	Is a	Disorder of lysosomal enzyme	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Is a	Leucodystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Globoid cell leukodystrophy, late-onset (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Globoid cell leukodystrophy, late-onset (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Is a	Galactosylceramide beta-galactosidase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder)	Occurrence	Adulthood	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Globoid cell leukodystrophy, late-onset (disorder)	Occurrence	Adulthood	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
68626016	Globoid cell leukodystrophy, late-onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68627013	Adult-type globoid cell leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68628015	Adult-type Krabbe's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492893016	Globoid cell leucodystrophy, late-onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777898015	Globoid cell leukodystrophy, late-onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229722014	Adult type Krabbe disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229723016	Late onset Krabbe disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229724010	Globoid cell leucodystrophy late onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229725011	Galactocerebroside beta-galactosidase deficiency - late onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68626016	Globoid cell leukodystrophy, late-onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
68626016	Globoid cell leukodystrophy, late-onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68627013	Adult-type globoid cell leukodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
68627013	Adult-type globoid cell leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68628015	Adult-type Krabbe's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492893016	Globoid cell leucodystrophy, late-onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492893016	Globoid cell leucodystrophy, late-onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777898015	Globoid cell leukodystrophy, late-onset (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
777898015	Globoid cell leukodystrophy, late-onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229722014	Adult type Krabbe disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229723016	Late onset Krabbe disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229724010	Globoid cell leucodystrophy late onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229724010	Globoid cell leucodystrophy late onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229725011	Galactocerebroside beta-galactosidase deficiency - late onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229725011	Galactocerebroside beta-galactosidase deficiency - late onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229726012	Galactocerebroside beta-galactosidase deficiency - late onset (disorder)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3445181001000117	Krabbe-Syndrom, spät-infantiles oder juveniles	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6918571000241111	leucodystrophie à cellules globoïdes à début tardif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6918571000241111	leucodystrophie à cellules globoïdes à début tardif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445181001000117	Krabbe-Syndrom, spät-infantiles oder juveniles	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module