||||||
encefalopathie met hypermethioninemie door adenosinekinasedeficiëntie (aandoening)
encefalopathie met hypermethioninemie door adenosinekinasedeficiëntie
encefalopathie met hypermethioninemie door ADK-deficiëntie
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase
Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency
A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22.
Id763721006
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8
CorrelationSNOMED CT source code to target map code correlation not specified