Isolated ATP synthase deficiency 780820008

SNOMED CT code

SNOMED code

780820008

name

Isolated ATP synthase deficiency

status

active

date introduced

2019-01-31

fully specified name(s)

Isolated adenosine triphosphate synthase deficiency (disorder)

synonyms

Isolated mitochondrial respiratory chain complex V deficiency
Isolated ATP synthase deficiency
Isolated adenosine triphosphate synthase deficiency

attributes - group1

Occurrence

Congenital 255399007

parents

Deficiency in enzyme complexes of mitochondrial respiratory chain 237987001
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Enzymopathy 78548001
Deficiency in enzyme complexes of mitochondrial respiratory chain 237987001
Isolated ATP synthase deficiency 780820008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Isolated ATP synthase deficiency 780820008

ancestors

sorted most to least specific

Deficiency in enzyme complexes of mitochondrial respiratory chain 237987001
Autosomal recessive hereditary disorder 85995004
Disorder of mitochondrial respiratory chain complexes 237986005
Autosomal hereditary disorder 1899006
Enzymopathy 78548001
Disorder of pyruvate metabolism and mitochondrial respiratory chain 237981000
Inborn error of metabolism 86095007
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
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

Metabolic disease 75934005

Enzymopathy 78548001

Deficiency in enzyme complexes of mitochondrial respiratory chain 237987001

Isolated ATP synthase deficiency 780820008

SNOMED CT code