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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
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
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 Only initial character 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 Only initial character 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
3037374014 Lysosomal enzyme defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6079711000241118 trouble d'une enzyme lysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6079711000241118 trouble d'une enzyme lysosomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


117 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of lysosomal enzyme Is a Storage disease false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lysosomal enzyme Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lysosomal enzyme Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lysosomal enzyme Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Disorder of lysosomal enzyme Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Lipid storage disease (disorder) Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis multiplex group Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Lipofuscinosis Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Gangliosidosis (disorder) Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Leukodystrophy Is a False Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Multiple sulfatase deficiency Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Arylsulphatase deficiency without metachromatic leucodystrophy Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Acid phosphatase deficiency Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cerebroside-sulfatase Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Mucolipidosis Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Glycoprotein storage disorder Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic triacylglycerol lipase deficiency (disorder) Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Farber's lipogranulomatosis Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Globoid cell leukodystrophy, late-onset (disorder) Is a False Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease Is a False Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy due to lysosomal disease (disorder) Due to True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept) 2
Oligosaccharidosis (disorder) Is a True Disorder of lysosomal enzyme Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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