1208620009: Multiple mitochondrial dysfunctions syndrome type 3 (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 3
• \Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 3
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 3
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 3
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 3
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 3
• \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 3
• \Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 3
• \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 3
• \Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 3

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965412010	Multiple mitochondrial dysfunctions syndrome type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
4965413017	MMDS3 - multiple mitochondrial dysfunctions syndrome type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
4965414011	Multiple mitochondrial dysfunctions syndrome type 3 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4965415012	IBA57 (iron-sulfur cluster assembly factor IBA57) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4965420012	A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leucoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes.	en	Definition	Active	Case sensitive	SNOMED CT core
4965421011	A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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