1208486005: Multiple mitochondrial dysfunctions syndrome type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Multiple mitochondrial dysfunctions syndrome type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964817018	Multiple mitochondrial dysfunctions syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964819015	MMDS2 - multiple mitochondrial dysfunctions syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964824017	BOLA3 (bolA family member 3) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399836019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399837011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964816010	Multiple mitochondrial dysfunctions syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964817018	Multiple mitochondrial dysfunctions syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964819015	MMDS2 - multiple mitochondrial dysfunctions syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964824017	BOLA3 (bolA family member 3) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399836019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399837011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3380961001000116	Mitochondriales Dysfunktions-Syndrom, multiples, Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3380961001000116	Mitochondriales Dysfunktions-Syndrom, multiples, Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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