1208486005: Multiple mitochondrial dysfunctions syndrome type 2 (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\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4964816010	Multiple mitochondrial dysfunctions syndrome type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4964817018	Multiple mitochondrial dysfunctions syndrome type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
4964819015	MMDS2 - multiple mitochondrial dysfunctions syndrome type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
4964824017	BOLA3 (bolA family member 3) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4964822018	A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. Caused by homozygous mutation in the BOLA3 gene on chromosome 2p13.	en	Definition	Active	Case sensitive	SNOMED CT core
4964823011	A rare mitochondrial disease characterised by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinaemia and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. Caused by homozygous mutation in the BOLA3 gene on chromosome 2p13.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

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