192782005: Galactosylceramide beta-galactosidase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...
• \Leucodystrophy\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\Leucodystrophy\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\Neurological disorder\Neuropathy\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Galactosylceramide beta-galactosidase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency
• \Disease\Disorder of body system\Neurological disorder\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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