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encefalomyopathische vorm van syndroom van depletie van mitochondriaal deoxyribonucleïnezuur 13 (aandoening)
encefalomyopathische vorm van syndroom van depletie van mitochondriaal deoxyribonucleïnezuur 13
encefalomyopathische vorm van syndroom van depletie van mitochondriaal desoxyribonucleïnezuur 13
FBXL4-gerelateerd encefalomyopathie
encefalomyopathische vorm van mitochondriaal DNA-depletiesyndroom 13
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy
Mitochondrial DNA depletion syndrome 13 encephalomyopathic type
F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
FBXL4-related early onset mitochondrial encephalopathy
A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern.
Id765403009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified