124115002: Deficiency of L-lactate dehydrogenase (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

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

\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
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of L-lactate dehydrogenase
\Metabolic disease\Disorder of carbohydrate metabolism\Lactate dehydrogenase deficiency\Deficiency of L-lactate dehydrogenase

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

203514012 Deficiency of lactic acid dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203515013 Deficiency of L-lactate dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727600017 Deficiency of L-lactate dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

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This concept is not in any reference sets