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

SNOMED CT Concept\Clinical finding\...

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

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\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\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\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\Congenital disease\Inborn error of metabolism\Storage disease\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. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4667744011 Glycogen storage disease type XI en Synonym Active Only initial character case insensitive SNOMED CT core module

4668873016 Glycogen storage disease due to lactate dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

4668874010 Glycogen storage disease due to lactate dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	2
Glycogen storage disease due to lactate dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Glycogen storage disease due to lactate dehydrogenase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Existential restriction modifier

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	Active	Only initial character case insensitive	SNOMED CT core module
4668873016	Glycogen storage disease due to lactate dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4668874010	Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module