|syndroom van multipele mitochondriale disfuncties (aandoening)
syndroom van multipele mitochondriale disfuncties
Multiple mitochondrial dysfunctions syndrome
MMDS - multiple mitochondrial dysfunctions syndrome
Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening.
|SNOMED CT to Orphanet simple map
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|SNOMED CT source code to target map code correlation not specified