780820008: Isolated adenosine triphosphate synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Isolated adenosine triphosphate synthase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Isolated adenosine triphosphate synthase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Isolated adenosine triphosphate synthase deficiency
• \Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Isolated adenosine triphosphate synthase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Isolated adenosine triphosphate synthase deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3743477014	Isolated mitochondrial respiratory chain complex V deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3743478016	Isolated ATP synthase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3743480010	Isolated adenosine triphosphate synthase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3743481014	Isolated adenosine triphosphate synthase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3743479012	A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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