1186809004: Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency

\Muscle finding (finding)\Disorder of muscle\...

\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency

\Secondary myopathy\Glycogen storage disease due to lactate dehydrogenase deficiency

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency

\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of muscle\Secondary myopathy\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to lactate dehydrogenase deficiency	Due to	Lactate dehydrogenase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease due to lactate dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lactate dehydrogenase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Secondary myopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4667744011	Glycogen storage disease type XI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4668873016	Glycogen storage disease due to lactate dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4668874010	Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667744011	Glycogen storage disease type XI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4668873016	Glycogen storage disease due to lactate dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4668874010	Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6248241000241111	maladie du stockage du glycogène due à un déficit en lactate déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6248251000241114	glycogénose par déficit en lactate déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6248261000241112	glycogénose de type 11	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6248241000241111	maladie du stockage du glycogène due à un déficit en lactate déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6248251000241114	glycogénose par déficit en lactate déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6248261000241112	glycogénose de type 11	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module