237982007: Lactate dehydrogenase deficiency (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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Lactate dehydrogenase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency

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

356682012 Lactate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356683019 Lactic acid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356684013 LDH - Lactate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626796016 Lactate dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5683751000172112 déficit en lactate déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4833491000172119 deficiëntie van lactaatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4833501000172112 LDH-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4833511000172110 lactaatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lactate dehydrogenase deficiency	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Lactate dehydrogenase deficiency	Is a	Disorder of carbohydrate metabolism	true	Inferred relationship	Some
Lactate dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Lactate dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of L-lactate dehydrogenase	Is a	True	Lactate dehydrogenase deficiency	Inferred relationship	Some
Deficiency of D-lactate dehydrogenase	Is a	True	Lactate dehydrogenase deficiency	Inferred relationship	Some
Deficiency of L-lactate dehydrogenase (cytochrome)	Is a	True	Lactate dehydrogenase deficiency	Inferred relationship	Some
Muscle L-lactate dehydrogenase deficiency	Is a	True	Lactate dehydrogenase deficiency	Inferred relationship	Some
Glycogen storage disease due to lactate dehydrogenase deficiency	Due to	True	Lactate dehydrogenase deficiency	Inferred relationship	Some	2

Reference Sets

Belgian subset for rheumatology in patient health records