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23585005: Disorder of lysosomal enzyme (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
3037374014 Lysosomal enzyme defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3037615010 Lysosomal enzyme disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
39615010 Disorder of lysosomal enzyme en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753122012 Disorder of lysosomal enzyme (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


114 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of lysosomal enzyme est un(e) (attribut) Storage disease true Inferred relationship Some
Disorder of lysosomal enzyme est un(e) (attribut) Enzymopathy true Inferred relationship Some
Disorder of lysosomal enzyme localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Disorder of lysosomal enzyme survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypertrophic cardiomyopathy due to lysosomal disease Due to True Disorder of lysosomal enzyme Inferred relationship Some 2
Oligosaccharidosis (disorder) est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Lipofuscinosis est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
gangliosidose (trouble) est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Leukodystrophy (disorder) est un(e) (attribut) False Disorder of lysosomal enzyme Inferred relationship Some
déficit multiple en sulfatases (trouble) est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
maladie de surchage lipidique est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Arylsulfatase deficiency without metachromatic leukodystrophy (disorder) est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Acid phosphatase deficiency (disorder) est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Globoid cell leucodystrophy, late-onset est un(e) (attribut) False Disorder of lysosomal enzyme Inferred relationship Some
Pelizaeus-Merzbacher disease est un(e) (attribut) False Disorder of lysosomal enzyme Inferred relationship Some
Deficiency of cerebroside-sulfatase est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Mucolipidosis est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Glycoprotein storage disorder est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Farber's lipogranulomatosis est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Mucopolysaccharidosis est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some
Dysostosis multiplex group est un(e) (attribut) True Disorder of lysosomal enzyme Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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