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

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset

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

\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency\Globoid cell leukodystrophy, late-onset
\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

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

68626016 Globoid cell leukodystrophy, late-onset en Synonym Active Entire term case insensitive SNOMED CT core module

68627013 Adult-type globoid cell leukodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

68628015 Adult-type Krabbe's disease en Synonym Active Only initial character case insensitive SNOMED CT core module

492893016 Globoid cell leucodystrophy, late-onset en Synonym Active Entire term case insensitive SNOMED CT core module

777898015 Globoid cell leukodystrophy, late-onset (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1229722014 Adult type Krabbe disease en Synonym Active Only initial character case insensitive SNOMED CT core module

1229723016 Late onset Krabbe disease en Synonym Active Only initial character case insensitive SNOMED CT core module

1229724010 Globoid cell leucodystrophy late onset en Synonym Active Entire term case insensitive SNOMED CT core module

1229725011 Galactocerebroside beta-galactosidase deficiency - late onset en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
68626016	Globoid cell leukodystrophy, late-onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
68627013	Adult-type globoid cell leukodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
68628015	Adult-type Krabbe's disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
492893016	Globoid cell leucodystrophy, late-onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
777898015	Globoid cell leukodystrophy, late-onset (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1229722014	Adult type Krabbe disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1229723016	Late onset Krabbe disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1229724010	Globoid cell leucodystrophy late onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1229725011	Galactocerebroside beta-galactosidase deficiency - late onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module