718713000: Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\...

\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital anomaly of myocardium\Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3313307010 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3313308017 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome en Synonym Active Case insensitive SNOMED CT core

3313306018 This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Congenital anomaly of myocardium	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Some	2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Lactic acidosis	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Hypertrophic mitochondrial cardiomyopathy	true	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Associated morphology	Hypertrophy	false	Inferred relationship	Some	4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Finding site	Myocardium structure	false	Inferred relationship	Some	4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	Is a	Congenital cardiovascular disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313307010	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313308017	Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3313306018	This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	en	Definition	Active	Case sensitive	SNOMED CT core