860858001: Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)
\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3944365014 Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3944366010 Glycogen storage disease due to muscle pyruvate kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12722191000172110 glycogénose par déficit en pyruvate kinase musculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12722201000172113 glycogénose due à un déficit en pyruvate kinase musculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12722211000172111 maladie du stockage du glycogène due à un déficit en pyruvate kinase musculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5243781000172114 glycogeenstapelingsziekte door PKM-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5243791000172112 glycogeenstapelingsziekte door PKD in spier nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5243801000172113 glycogeenstapelingsziekte door musculaire pyruvaatkinasedeficientie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)	Due to	Deficiency of pyruvate kinase (disorder)	true	Inferred relationship	Some	2

Inbound Relationships

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Active

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Characteristic

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Group

This concept is not in any reference sets