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238030005: Galactocerebroside beta-galactosidase deficiency - early onset (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356773010 Galactocerebroside beta-galactosidase deficiency - early onset en Synonym Active Case insensitive SNOMED CT core
356774016 Infantile Krabbe disease en Synonym Active Initial character case insensitive SNOMED CT core
356775015 Globoid cell leucodystrophy, early onset en Synonym Inactive Initial character case insensitive SNOMED CT core
356776019 Globoid cell leukodystrophy, early onset en Synonym Inactive Initial character case insensitive SNOMED CT core
626852011 Galactocerebroside beta-galactosidase deficiency - early onset (disorder) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 fibre structure true Inferred relationship Some 1
Galactocerebroside beta-galactosidase deficiency - early onset Finding site White matter structure of brain and spinal cord true Inferred relationship Some 2
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 Sphingolipidosis false Inferred relationship Some

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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