238030005: vroeg optredende galactocerebroside-bèta-galactosidasedeficiëntie (aandoening)

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

\Neurological lesion\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset

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

\Leucodystrophy\Galactosylceramide beta-galactosidase deficiency\Galactocerebroside beta-galactosidase deficiency - early onset

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

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

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
Galactocerebroside beta-galactosidase deficiency - early onset	Is a	Sphingolipidosis	false	Inferred relationship	Some
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Congenital	false	Inferred relationship	Some
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	Body system structure	false	Inferred relationship	Some
Galactocerebroside beta-galactosidase deficiency - early onset	Is a	Galactosylceramide beta-galactosidase deficiency	true	Inferred relationship	Some
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Infancy	true	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Galactocerebroside beta-galactosidase deficiency - early onset	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Infancy	true	Inferred relationship	Some	2
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Galactosylceramide lipidosis	Due to	True	Galactocerebroside beta-galactosidase deficiency - early onset	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356773010	Galactocerebroside beta-galactosidase deficiency - early onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356774016	Infantile Krabbe disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356775015	Globoid cell leucodystrophy, early onset	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356776019	Globoid cell leukodystrophy, early onset	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626852011	Galactocerebroside beta-galactosidase deficiency - early onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6785331000146117	vroeg optredende deficiëntie van galactocerebroside-bèta-galactosidase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6785341000146113	vroeg optredende galactocerebroside-bèta-galactosidase-deficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6785351000146111	vroeg optredende galactocerebroside-bèta-galactosidase-deficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13296921000146112	vroeg optredende galactocerebroside-bèta-galactosidasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13296931000146114	vroeg optredende galactocerebroside-bèta-galactosidasedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)