124141008: Deficiency of L-lactate dehydrogenase (cytochrome) (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Deficiency of L-lactate dehydrogenase (cytochrome)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Deficiency of L-lactate dehydrogenase (cytochrome)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of L-lactate dehydrogenase (cytochrome)
\Metabolic disease\Disorder of carbohydrate metabolism\Lactate dehydrogenase deficiency\Deficiency of L-lactate dehydrogenase (cytochrome)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Deficiency of L-lactate dehydrogenase (cytochrome)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

203574019 Deficiency of lactic acid dehydrogenase (cytochrome) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203575018 Deficiency of L-lactate dehydrogenase (cytochrome) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727631012 Deficiency of L-lactate dehydrogenase (cytochrome) (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5795881000172116 déficit en L-lactate déshydrogénase (cytochrome) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4996861000172115 deficiëntie van cytochroom c-afhankelijke L-lactaatdehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4996871000172112 cytochroom c-afhankelijke L-LDH-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4996881000172110 cytochroom c-afhankelijke L-lactaatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of L-lactate dehydrogenase (cytochrome)	Is a	Lactate dehydrogenase deficiency	true	Inferred relationship	Some
Deficiency of L-lactate dehydrogenase (cytochrome)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of L-lactate dehydrogenase (cytochrome)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of L-lactate dehydrogenase (cytochrome)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Characteristic

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This concept is not in any reference sets