1186809004: glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase (aandoening)

• 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\Disorder of muscle\...
• \Congenital myopathy (disorder)\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Hereditary myopathy (disorder)\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Disorder of skeletal muscle\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Secondary myopathy\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 myopathy (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\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 muscle\Congenital myopathy (disorder)\Glycogen storage disease due to lactate dehydrogenase deficiency
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\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:

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
13244861000146111	glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244871000146117	glycogenose type 11	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244881000146115	glycogeenstapelingsziekte type XI	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244891000146118	glycogeenstapelingsziekte door LDH-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244901000146117	glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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