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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (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
626852011 Galactocerebroside beta-galactosidase deficiency - early onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12114841000172115 déficit en galactocérébroside bêta-galactosidase à début précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
12114851000172118 maladie de Krabbe d'apparition précoce fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4594161000172113 vroeg optredende deficiëntie van galactocerebroside-bèta-galactosidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4594171000172116 vroeg optredende galactocerebroside-bèta-galactosidase-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

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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