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192782005: Galactosylceramide beta-galactosidase deficiency (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
296960012 Galactosylceramide beta-galactosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
296961011 Krabbe's leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
296963014 Globoid cell leucodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
296964015 Krabbe leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
296965019 GCL - Globoid cell leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
296966018 Krabbe's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
296967010 Krabbe disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
296968017 Galactocerebroside beta-galactosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
296969013 Diffuse globoid cell cerebral sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
576601013 Galactosylceramide beta-galactosidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) Sphingolipidosis true Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) Leukodystrophy (disorder) false Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) Leukodystrophy true Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) Myelin sheath alteration false Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) Myelin sheath alteration true Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency survenue (attribut) congénital false Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 2
Galactosylceramide beta-galactosidase deficiency localisation d'une constatation (attribut) Myelinated nerve fiber structure true Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency localisation d'une constatation (attribut) White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Galactocerebroside beta-galactosidase deficiency - early onset est un(e) (attribut) True Galactosylceramide beta-galactosidase deficiency Inferred relationship Some
Globoid cell leucodystrophy, late-onset est un(e) (attribut) True Galactosylceramide beta-galactosidase deficiency Inferred relationship Some

This concept is not in any reference sets

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