Autosomal recessive hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Hereditary metabolic disease	Hereditary myopathy	Mitochondrial encephalomyopathy
\|	\|	\|	\|	\|	\|

FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
	FASTKD2-related infantile mitochondrial encephalomyopathy
	FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.
	FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie

Id	778029000
Status	Primitive

Finding site	Brain structure
Occurrence	Infancy

Finding site	Skeletal muscle structure
Occurrence	Infancy

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G71.3
Rule	TRUE
Advice	ALWAYS G71.3
Correlation	SNOMED CT source code to target map code correlation not specified