Preferred Label : childhood myocerebrohepatopathy spectrum;
Définition CISMeF : Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group
of conditions called the POLG-related disorders. The conditions in this group feature
a range of similar signs and symptoms involving muscle-, nerve-, and brain-related
functions. MCHS typically becomes apparent in children from a few months to 3 years
old. People with this condition usually have problems with their muscles (myo-), brain
(cerebro-), and liver (hepato-). Common signs and symptoms of MCHS include muscle
weakness (myopathy), developmental delay or a deterioration of intellectual function,
and liver disease. Another possible sign of this condition is a toxic buildup of lactic
acid in the body (lactic acidosis). Often, affected children are unable to gain weight
and grow at the expected rate (failure to thrive).;
Is substance : O;
Origin ID : C579990;
UMLS CUI : C3713421;
CISMeF manual mappings
- MeSH term(s) associated for indexing
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group
of conditions called the POLG-related disorders. The conditions in this group feature
a range of similar signs and symptoms involving muscle-, nerve-, and brain-related
functions. MCHS typically becomes apparent in children from a few months to 3 years
old. People with this condition usually have problems with their muscles (myo-), brain
(cerebro-), and liver (hepato-). Common signs and symptoms of MCHS include muscle
weakness (myopathy), developmental delay or a deterioration of intellectual function,
and liver disease. Another possible sign of this condition is a toxic buildup of lactic
acid in the body (lactic acidosis). Often, affected children are unable to gain weight
and grow at the expected rate (failure to thrive).
