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\Myopathy\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Musculoskeletal finding\Musculoskeletal 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\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Disease\Myopathy\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, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667744011	Glycogen storage disease type XI	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4668873016	Glycogen storage disease due to lactate dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4668874010	Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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