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syndroom van acuut infantiel leverfalen met multisystemische betrokkenheid (aandoening)
syndroom van acuut infantiel leverfalen met multisystemische betrokkenheid
Acute infantile liver failure with multisystemic involvement syndrome
A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.
Id774207004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetK72.0
RuleTRUE
AdviceALWAYS K72.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified