192782005: Galactosylceramide beta-galactosidase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency

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

\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency

\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency

\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
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactosylceramide beta-galactosidase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency
\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
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Galactosylceramide beta-galactosidase deficiency
\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
\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
\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
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Galactosylceramide beta-galactosidase deficiency

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

296960012 Galactosylceramide beta-galactosidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
296961011 Krabbe's leukodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
296962016 Diffuse globoid body sclerosis en Synonym Inactive Only initial character case insensitive SNOMED CT core module
296963014 Globoid cell leucodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
296964015 Krabbe leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
296965019 GCL - Globoid cell leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
296966018 Krabbe's disease en Synonym Active Entire term case sensitive SNOMED CT core module
296967010 Krabbe disease en Synonym Active Entire term case sensitive SNOMED CT core module
296968017 Galactocerebroside beta-galactosidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
296969013 Diffuse globoid cell cerebral sclerosis en Synonym Active Entire term case insensitive SNOMED CT core module
576601013 Galactosylceramide beta-galactosidase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Galactosylceramide beta-galactosidase deficiency	Is a	Sphingolipidosis	true	Inferred relationship	Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency	Is a	Leukodystrophy	false	Inferred relationship	Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency	Is a	Leukodystrophy	true	Inferred relationship	Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Galactosylceramide beta-galactosidase deficiency	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier	1
Galactosylceramide beta-galactosidase deficiency	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Existential restriction modifier	2
Galactosylceramide beta-galactosidase deficiency	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Galactocerebroside beta-galactosidase deficiency - early onset	Is a	True	Galactosylceramide beta-galactosidase deficiency	Inferred relationship	Existential restriction modifier
Globoid cell leukodystrophy, late-onset	Is a	True	Galactosylceramide beta-galactosidase deficiency	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
296960012	Galactosylceramide beta-galactosidase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
296961011	Krabbe's leukodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
296962016	Diffuse globoid body sclerosis	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
296963014	Globoid cell leucodystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
296964015	Krabbe leucodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
296965019	GCL - Globoid cell leucodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
296966018	Krabbe's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
296967010	Krabbe disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
296968017	Galactocerebroside beta-galactosidase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
296969013	Diffuse globoid cell cerebral sclerosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
576601013	Galactosylceramide beta-galactosidase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module