718219002: Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

\Disorder of head\Disorder of brain\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Disorder of nervous system\System disorder of the nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Disorder of head\Disorder of brain\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Metabolic disease\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3310361012 Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3310362017 Congenital lactic acidosis Saguenay-Lac-Saint-Jean type en Synonym Active Only initial character case insensitive SNOMED CT core module
3311561017 Leigh syndrome French-Canadian type en Synonym Active Entire term case sensitive SNOMED CT core module
3311562012 Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type en Synonym Active Only initial character case insensitive SNOMED CT core module
3311563019 Cytochrome C oxidase deficiency French-Canadian type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Is a	Leigh's disease	true	Inferred relationship	Existential restriction modifier
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Is a	Cytochrome-c oxidase deficiency	true	Inferred relationship	Existential restriction modifier
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3310361012	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3310362017	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3311561017	Leigh syndrome French-Canadian type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3311562012	Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3311563019	Cytochrome C oxidase deficiency French-Canadian type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module