724279004: Combined oxidative phosphorylation defect type 5 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypotonia with lactic acidaemia and hyperammonaemia
• \Metabolic disease\Mitochondrial cytopathy\Hypotonia with lactic acidaemia and hyperammonaemia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3433539014	Combined oxidative phosphorylation defect type 5 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3433540011	Combined oxidative phosphorylation defect type 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3433541010	COXPD5 - combined oxidative phosphorylation defect 5	en	Synonym	Active	Case sensitive	SNOMED CT core
3433542015	Hypotonia with lactic acidemia and hyperammonemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3433543013	Hypotonia with lactic acidaemia and hyperammonaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3433544019	This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalized edema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein	en	Definition	Active	Case sensitive	SNOMED CT core
3433545018	This syndrome is characterised by severe hypotonia, lactic acidaemia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein.	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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