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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Central nervous system finding\Disorder of the central nervous system (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 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \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 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \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 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\System disorders of the nervous system\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (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 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
• \Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\Cytochrome-c oxidase deficiency\Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)

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

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 (core metadata concept)	SNOMED CT core
3310362017	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311561017	Leigh syndrome French-Canadian type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311562012	Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311563019	Cytochrome C oxidase deficiency French-Canadian type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401730018	A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401731019	A rare degenerative mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310361012	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3310362017	Congenital lactic acidosis Saguenay-Lac-Saint-Jean type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311561017	Leigh syndrome French-Canadian type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311562012	Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311563019	Cytochrome C oxidase deficiency French-Canadian type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311565014	A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401730018	A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401731019	A rare degenerative mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3454561001000119	Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
870221000172118	acidose lactique congénitale type Saguenay-Lac-Saint-Jean	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905701000172111	déficit en COX type franco-canadien	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
870221000172118	acidose lactique congénitale type Saguenay-Lac-Saint-Jean	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905701000172111	déficit en COX type franco-canadien	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454561001000119	Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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