763280005: Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Urinary complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\Disorder of head\Encephalopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coenzyme Q10 deficiency\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Metabolic neuropathy\Peripheral neuropathy due to metabolic disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Hypertrophic cardiomyopathy\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Hypertrophic cardiomyopathy due to disorder\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Hypertrophic mitochondrial cardiomyopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease 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\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of head\Encephalopathy\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Metabolic disease\Metabolic renal disease\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Coenzyme Q10 deficiency\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
\Disease\Disorder of soft tissue\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3638382019 Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome en Synonym Active Case insensitive SNOMED CT core

3638383012 Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3638384018 A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Hypertrophic cardiomyopathy due to disorder	false	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Hypertrophic mitochondrial cardiomyopathy	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	4
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Coenzyme Q10 deficiency	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Renal tubular disorder	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Finding site	Renal tubule structure	true	Inferred relationship	Some	5
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Central nervous system complication	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Urinary complication	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Metabolic renal disease	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Due to	Coenzyme Q10 deficiency	false	Inferred relationship	Some	4
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Encephalopathy	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Cardiomyopathy associated with another disorder	false	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Hypertrophic cardiomyopathy	false	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Mitochondrial cytopathy	false	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Peripheral neuropathy due to metabolic disorder	true	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	Congenital cardiovascular disorder	false	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Some	1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Finding site	Myocardium structure	true	Inferred relationship	Some	1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Finding site	Brain structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3638382019	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638383012	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638384018	A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	en	Definition	Active	Case sensitive	SNOMED CT core