Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 718219002

SNOMED CT code

SNOMED code

718219002

name

Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

status

active

date introduced

2016-07-31

fully specified name(s)

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

synonyms

Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
Leigh syndrome French-Canadian type
Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type
Cytochrome C oxidase deficiency French-Canadian type

attributes - group1

Finding site

Brain structure 12738006

Associated morphology

Degenerative abnormality 107669003

Occurrence

Congenital 255399007

parents

Inherited metabolic disorder of nervous system 128190004
Leigh's disease 29570005
Cytochrome-c oxidase deficiency 67434000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Inherited metabolic disorder of nervous system 128190004
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 718219002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
System disorder of the nervous system 230226000
Leigh's disease 29570005
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 718219002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Mitochondrial cytopathy 240096000
Cytochrome-c oxidase deficiency 67434000
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 718219002

ancestors

sorted most to least specific

Inherited metabolic disorder of nervous system 128190004
Leigh's disease 29570005
Cytochrome-c oxidase deficiency 67434000
Hereditary degenerative disease of central nervous system 106018006
Deficiency in enzyme complexes of mitochondrial respiratory chain 237987001
System disorder of the nervous system 230226000
Degenerative brain disorder 52522001
Mitochondrial cytopathy 240096000
Hereditary disorder of nervous system 363235000
Disorder of mitochondrial respiratory chain complexes 237986005
Degenerative disease of the central nervous system 80690008
Enzymopathy 78548001
Disorder of brain 81308009
Disorder of pyruvate metabolism and mitochondrial respiratory chain 237981000
Hereditary disorder by system 363137000
Disorder of the central nervous system 23853001
Disorder of head 118934005
Degenerative disorder 362975008
Finding of brain 299718000
Disorder of nervous system 118940003
Inborn error of metabolism 86095007
Head finding 406122000
Central nervous system finding 246556002
Disorder of body system 362965005
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Finding of head and neck region 118254002
Hereditary disease 32895009
Metabolic disease 75934005
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Congenital disease 66091009

Inborn error of metabolism 86095007

Inherited metabolic disorder of nervous system 128190004

Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 718219002

SNOMED CT code